id	sid	tid	token	lemma	pos
hls-13440	1	1	hrev_master	hrev_master	NOUN
hls-13440	1	2	healthcare	healthcare	NOUN
hls-13440	1	3	in	in	ADP
hls-13440	1	4	low	low	ADJ
hls-13440	1	5	-	-	PUNCT
hls-13440	1	6	resource	resource	NOUN
hls-13440	1	7	settings	setting	NOUN
hls-13440	1	8	2025	2025	NUM
hls-13440	1	9	;	;	PUNCT
hls-13440	1	10	volume	volume	NOUN
hls-13440	1	11	13:13440	13:13440	NUM
hls-13440	1	12	novel	novel	ADJ
hls-13440	1	13	clinical	clinical	ADJ
hls-13440	1	14	findings	finding	NOUN
hls-13440	1	15	of	of	ADP
hls-13440	1	16	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	1	17	disorder	disorder	NOUN
hls-13440	1	18	linked	link	VERB
hls-13440	1	19	to	to	ADP
hls-13440	1	20	hpdl	hpdl	NOUN
hls-13440	1	21	gene	gene	NOUN
hls-13440	1	22	mutation	mutation	NOUN
hls-13440	1	23	:	:	PUNCT
hls-13440	1	24	a	a	DET
hls-13440	1	25	case	case	NOUN
hls-13440	1	26	report	report	NOUN
hls-13440	1	27	from	from	ADP
hls-13440	1	28	saudi	saudi	PROPN
hls-13440	1	29	arabia	arabia	PROPN
hls-13440	1	30	abdullah	abdullah	PROPN
hls-13440	1	31	musallam	musallam	PROPN
hls-13440	1	32	alkhalaf,1	alkhalaf,1	PROPN
hls-13440	1	33	moayad	moayad	PROPN
hls-13440	1	34	ahmed	ahmed	PROPN
hls-13440	1	35	alshaqaq,2	alshaqaq,2	PROPN
hls-13440	1	36	nadia	nadia	PROPN
hls-13440	1	37	jradi,3	jradi,3	PROPN
hls-13440	1	38	ahmad	ahmad	PROPN
hls-13440	1	39	hassan	hassan	PROPN
hls-13440	1	40	aljaziri,1	aljaziri,1	VERB
hls-13440	1	41	essa	essa	PROPN
hls-13440	1	42	sultan	sultan	PROPN
hls-13440	1	43	alsultan1	alsultan1	PROPN
hls-13440	2	1	1college	1college	NUM
hls-13440	2	2	of	of	ADP
hls-13440	2	3	medicine	medicine	NOUN
hls-13440	2	4	,	,	PUNCT
hls-13440	2	5	king	king	NOUN
hls-13440	2	6	faisal	faisal	PROPN
hls-13440	2	7	university	university	PROPN
hls-13440	2	8	,	,	PUNCT
hls-13440	2	9	al	al	PROPN
hls-13440	2	10	-	-	PUNCT
hls-13440	2	11	ahsa	ahsa	NOUN
hls-13440	2	12	;	;	PUNCT
hls-13440	2	13	2pediatric	2pediatric	NUM
hls-13440	2	14	neurology	neurology	NOUN
hls-13440	2	15	consultant	consultant	NOUN
hls-13440	2	16	,	,	PUNCT
hls-13440	2	17	maternity	maternity	NOUN
hls-13440	2	18	and	and	CCONJ
hls-13440	2	19	children	child	NOUN
hls-13440	2	20	hospital	hospital	NOUN
hls-13440	2	21	,	,	PUNCT
hls-13440	2	22	al	al	PROPN
hls-13440	2	23	-	-	PUNCT
hls-13440	2	24	ahsa	ahsa	NOUN
hls-13440	2	25	;	;	PUNCT
hls-13440	2	26	3department	3department	NUM
hls-13440	2	27	of	of	ADP
hls-13440	2	28	pediatrics	pediatric	NOUN
hls-13440	2	29	,	,	PUNCT
hls-13440	2	30	college	college	NOUN
hls-13440	2	31	of	of	ADP
hls-13440	2	32	medicine	medicine	NOUN
hls-13440	2	33	,	,	PUNCT
hls-13440	2	34	king	king	NOUN
hls-13440	2	35	faisal	faisal	PROPN
hls-13440	2	36	university	university	PROPN
hls-13440	2	37	,	,	PUNCT
hls-13440	2	38	al	al	PROPN
hls-13440	2	39	-	-	PUNCT
hls-13440	2	40	ahsa	ahsa	PROPN
hls-13440	2	41	,	,	PUNCT
hls-13440	2	42	saudi	saudi	PROPN
hls-13440	2	43	arabia	arabia	PROPN
hls-13440	2	44	abstract	abstract	ADJ
hls-13440	2	45	hpdl	hpdl	PROPN
hls-13440	2	46	gene	gene	NOUN
hls-13440	2	47	mutations	mutation	NOUN
hls-13440	2	48	have	have	AUX
hls-13440	2	49	recently	recently	ADV
hls-13440	2	50	been	be	AUX
hls-13440	2	51	linked	link	VERB
hls-13440	2	52	to	to	ADP
hls-13440	2	53	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	2	54	disorders	disorder	NOUN
hls-13440	2	55	with	with	ADP
hls-13440	2	56	variable	variable	ADJ
hls-13440	2	57	presentations	presentation	NOUN
hls-13440	2	58	,	,	PUNCT
hls-13440	2	59	ranging	range	VERB
hls-13440	2	60	from	from	ADP
hls-13440	2	61	mild	mild	ADJ
hls-13440	2	62	hereditary	hereditary	ADJ
hls-13440	2	63	spastic	spastic	ADJ
hls-13440	2	64	paraplegia	paraplegia	NOUN
hls-13440	2	65	to	to	ADP
hls-13440	2	66	severe	severe	ADJ
hls-13440	2	67	infantile	infantile	ADJ
hls-13440	2	68	neurodegeneration	neurodegeneration	NOUN
hls-13440	2	69	.	.	PUNCT
hls-13440	3	1	while	while	SCONJ
hls-13440	3	2	the	the	DET
hls-13440	3	3	hpdl	hpdl	ADJ
hls-13440	3	4	protein	protein	NOUN
hls-13440	3	5	’s	’s	PART
hls-13440	3	6	role	role	NOUN
hls-13440	3	7	is	be	AUX
hls-13440	3	8	unknown	unknown	ADJ
hls-13440	3	9	,	,	PUNCT
hls-13440	3	10	it	it	PRON
hls-13440	3	11	is	be	AUX
hls-13440	3	12	highly	highly	ADV
hls-13440	3	13	expressed	express	VERB
hls-13440	3	14	in	in	ADP
hls-13440	3	15	brain	brain	NOUN
hls-13440	3	16	mitochondria	mitochondria	NOUN
hls-13440	3	17	.	.	PUNCT
hls-13440	4	1	here	here	ADV
hls-13440	4	2	we	we	PRON
hls-13440	4	3	report	report	VERB
hls-13440	4	4	a	a	DET
hls-13440	4	5	case	case	NOUN
hls-13440	4	6	of	of	ADP
hls-13440	4	7	a	a	DET
hls-13440	4	8	19month	19month	NUM
hls-13440	4	9	-	-	PUNCT
hls-13440	4	10	old	old	ADJ
hls-13440	4	11	male	male	NOUN
hls-13440	4	12	with	with	ADP
hls-13440	4	13	a	a	DET
hls-13440	4	14	homozygous	homozygous	ADJ
hls-13440	4	15	hpdl	hpdl	NOUN
hls-13440	4	16	gene	gene	NOUN
hls-13440	4	17	mutation	mutation	NOUN
hls-13440	4	18	presented	present	VERB
hls-13440	4	19	with	with	ADP
hls-13440	4	20	global	global	ADJ
hls-13440	4	21	developmental	developmental	ADJ
hls-13440	4	22	delay	delay	NOUN
hls-13440	4	23	,	,	PUNCT
hls-13440	4	24	epilepsy	epilepsy	NOUN
hls-13440	4	25	,	,	PUNCT
hls-13440	4	26	laryngomalacia	laryngomalacia	NOUN
hls-13440	4	27	post	post	NOUN
hls-13440	4	28	-	-	ADJ
hls-13440	4	29	arytenoidectomy	arytenoidectomy	ADJ
hls-13440	4	30	,	,	PUNCT
hls-13440	4	31	swallowing	swallow	VERB
hls-13440	4	32	dysfunction	dysfunction	NOUN
hls-13440	4	33	,	,	PUNCT
hls-13440	4	34	and	and	CCONJ
hls-13440	4	35	spasticity	spasticity	NOUN
hls-13440	4	36	.	.	PUNCT
hls-13440	5	1	he	he	PRON
hls-13440	5	2	exhibited	exhibit	VERB
hls-13440	5	3	significant	significant	ADJ
hls-13440	5	4	dysmorphic	dysmorphic	ADJ
hls-13440	5	5	features	feature	NOUN
hls-13440	5	6	and	and	CCONJ
hls-13440	5	7	recurrent	recurrent	ADJ
hls-13440	5	8	convulsions	convulsion	NOUN
hls-13440	5	9	,	,	PUNCT
hls-13440	5	10	and	and	CCONJ
hls-13440	5	11	required	require	VERB
hls-13440	5	12	nasogastric	nasogastric	ADJ
hls-13440	5	13	feeding	feeding	NOUN
hls-13440	5	14	due	due	ADP
hls-13440	5	15	to	to	ADP
hls-13440	5	16	oral	oral	ADJ
hls-13440	5	17	feeding	feeding	NOUN
hls-13440	5	18	difficulties	difficulty	NOUN
hls-13440	5	19	.	.	PUNCT
hls-13440	6	1	introduction	introduction	NOUN
hls-13440	6	2	the	the	DET
hls-13440	6	3	pathophysiology	pathophysiology	NOUN
hls-13440	6	4	of	of	ADP
hls-13440	6	5	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	6	6	impairments	impairment	NOUN
hls-13440	6	7	is	be	AUX
hls-13440	6	8	complicated	complicate	VERB
hls-13440	6	9	and	and	CCONJ
hls-13440	6	10	involves	involve	VERB
hls-13440	6	11	both	both	CCONJ
hls-13440	6	12	hereditary	hereditary	ADJ
hls-13440	6	13	and	and	CCONJ
hls-13440	6	14	environmental	environmental	ADJ
hls-13440	6	15	variables	variable	NOUN
hls-13440	6	16	.	.	PUNCT
hls-13440	7	1	these	these	DET
hls-13440	7	2	disabilities	disability	NOUN
hls-13440	7	3	arise	arise	VERB
hls-13440	7	4	from	from	ADP
hls-13440	7	5	improper	improper	ADJ
hls-13440	7	6	development	development	NOUN
hls-13440	7	7	of	of	ADP
hls-13440	7	8	the	the	DET
hls-13440	7	9	central	central	ADJ
hls-13440	7	10	nervous	nervous	ADJ
hls-13440	7	11	system	system	NOUN
hls-13440	7	12	.	.	PUNCT
hls-13440	8	1	recent	recent	ADJ
hls-13440	8	2	research	research	NOUN
hls-13440	8	3	has	have	AUX
hls-13440	8	4	demonstrated	demonstrate	VERB
hls-13440	8	5	that	that	SCONJ
hls-13440	8	6	biallelic	biallelic	ADJ
hls-13440	8	7	variations	variation	NOUN
hls-13440	8	8	in	in	ADP
hls-13440	8	9	the	the	DET
hls-13440	8	10	4	4	NUM
hls-13440	8	11	-	-	PUNCT
hls-13440	8	12	hydroxyphenylpyruvate	hydroxyphenylpyruvate	ADJ
hls-13440	8	13	dioxygenaselike	dioxygenaselike	NOUN
hls-13440	8	14	(	(	PUNCT
hls-13440	8	15	hpdl	hpdl	NOUN
hls-13440	8	16	)	)	PUNCT
hls-13440	8	17	gene	gene	NOUN
hls-13440	8	18	may	may	AUX
hls-13440	8	19	be	be	AUX
hls-13440	8	20	the	the	DET
hls-13440	8	21	cause	cause	NOUN
hls-13440	8	22	of	of	ADP
hls-13440	8	23	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	8	24	disorders.1	disorders.1	PROPN
hls-13440	8	25	biallelic	biallelic	ADJ
hls-13440	8	26	variants	variant	NOUN
hls-13440	8	27	in	in	ADP
hls-13440	8	28	the	the	DET
hls-13440	8	29	hpdl	hpdl	NOUN
hls-13440	8	30	gene	gene	NOUN
hls-13440	8	31	have	have	AUX
hls-13440	8	32	been	be	AUX
hls-13440	8	33	described	describe	VERB
hls-13440	8	34	in	in	ADP
hls-13440	8	35	2020	2020	NUM
hls-13440	8	36	as	as	ADP
hls-13440	8	37	able	able	ADJ
hls-13440	8	38	to	to	PART
hls-13440	8	39	cause	cause	VERB
hls-13440	8	40	a	a	DET
hls-13440	8	41	progressive	progressive	ADJ
hls-13440	8	42	disorder	disorder	NOUN
hls-13440	8	43	with	with	ADP
hls-13440	8	44	variable	variable	ADJ
hls-13440	8	45	clinical	clinical	ADJ
hls-13440	8	46	presentation	presentation	NOUN
hls-13440	8	47	,	,	PUNCT
hls-13440	8	48	ranging	range	VERB
hls-13440	8	49	from	from	ADP
hls-13440	8	50	milder	mild	ADJ
hls-13440	8	51	manifestation	manifestation	NOUN
hls-13440	8	52	of	of	ADP
hls-13440	8	53	adolescentonset	adolescentonset	ADJ
hls-13440	8	54	pure	pure	ADJ
hls-13440	8	55	hereditary	hereditary	ADJ
hls-13440	8	56	spastic	spastic	ADJ
hls-13440	8	57	paraplegia	paraplegia	NOUN
hls-13440	8	58	(	(	PUNCT
hls-13440	8	59	hsp	hsp	NOUN
hls-13440	8	60	)	)	PUNCT
hls-13440	8	61	,	,	PUNCT
hls-13440	8	62	classified	classify	VERB
hls-13440	8	63	as	as	ADP
hls-13440	8	64	autosomal	autosomal	ADJ
hls-13440	8	65	recessive	recessive	ADJ
hls-13440	8	66	spastic	spastic	ADJ
hls-13440	8	67	paraplegia-83	paraplegia-83	PROPN
hls-13440	8	68	(	(	PUNCT
hls-13440	8	69	spg83	spg83	PROPN
hls-13440	8	70	)	)	PUNCT
hls-13440	8	71	,	,	PUNCT
hls-13440	8	72	to	to	ADP
hls-13440	8	73	severe	severe	ADJ
hls-13440	8	74	neonatal	neonatal	ADJ
hls-13440	8	75	-	-	PUNCT
hls-13440	8	76	onset	onset	NOUN
hls-13440	8	77	encephalopathy	encephalopathy	NOUN
hls-13440	8	78	or	or	CCONJ
hls-13440	8	79	infantile	infantile	ADJ
hls-13440	8	80	-	-	PUNCT
hls-13440	8	81	onset	onset	NOUN
hls-13440	8	82	neurodegeneration	neurodegeneration	NOUN
hls-13440	8	83	with	with	ADP
hls-13440	8	84	progressive	progressive	ADJ
hls-13440	8	85	spasticity	spasticity	NOUN
hls-13440	8	86	and	and	CCONJ
hls-13440	8	87	brain	brain	NOUN
hls-13440	8	88	white	white	ADJ
hls-13440	8	89	matter	matter	NOUN
hls-13440	8	90	abnormalities	abnormality	NOUN
hls-13440	8	91	(	(	PUNCT
hls-13440	9	1	nedswma).2	nedswma).2	PROPN
hls-13440	9	2	furthermore	furthermore	ADV
hls-13440	9	3	,	,	PUNCT
hls-13440	9	4	affected	affect	VERB
hls-13440	9	5	patients	patient	NOUN
hls-13440	9	6	with	with	ADP
hls-13440	9	7	hpdl	hpdl	NOUN
hls-13440	9	8	mutation	mutation	NOUN
hls-13440	9	9	typically	typically	ADV
hls-13440	9	10	develop	develop	VERB
hls-13440	9	11	spasticity	spasticity	NOUN
hls-13440	9	12	,	,	PUNCT
hls-13440	9	13	primarily	primarily	ADV
hls-13440	9	14	in	in	ADP
hls-13440	9	15	the	the	DET
hls-13440	9	16	lower	low	ADJ
hls-13440	9	17	limbs.3	limbs.3	NOUN
hls-13440	9	18	still	still	ADV
hls-13440	9	19	,	,	PUNCT
hls-13440	9	20	the	the	DET
hls-13440	9	21	role	role	NOUN
hls-13440	9	22	of	of	ADP
hls-13440	9	23	the	the	DET
hls-13440	9	24	hpdl	hpdl	ADJ
hls-13440	9	25	protein	protein	NOUN
hls-13440	9	26	remains	remain	VERB
hls-13440	9	27	unknown	unknown	ADJ
hls-13440	9	28	.	.	PUNCT
hls-13440	10	1	hpdl	hpdl	PROPN
hls-13440	10	2	is	be	AUX
hls-13440	10	3	broadly	broadly	ADV
hls-13440	10	4	expressed	express	VERB
hls-13440	10	5	in	in	ADP
hls-13440	10	6	tissues	tissue	NOUN
hls-13440	10	7	,	,	PUNCT
hls-13440	10	8	with	with	ADP
hls-13440	10	9	the	the	DET
hls-13440	10	10	most	most	ADV
hls-13440	10	11	concentrated	concentrated	ADJ
hls-13440	10	12	amounts	amount	NOUN
hls-13440	10	13	found	find	VERB
hls-13440	10	14	in	in	ADP
hls-13440	10	15	the	the	DET
hls-13440	10	16	brain	brain	NOUN
hls-13440	10	17	,	,	PUNCT
hls-13440	10	18	and	and	CCONJ
hls-13440	10	19	it	it	PRON
hls-13440	10	20	is	be	AUX
hls-13440	10	21	specifically	specifically	ADV
hls-13440	10	22	located	locate	VERB
hls-13440	10	23	in	in	ADP
hls-13440	10	24	mitochondria.4	mitochondria.4	PROPN
hls-13440	10	25	here	here	ADV
hls-13440	10	26	,	,	PUNCT
hls-13440	10	27	we	we	PRON
hls-13440	10	28	report	report	VERB
hls-13440	10	29	a	a	DET
hls-13440	10	30	patient	patient	NOUN
hls-13440	10	31	with	with	ADP
hls-13440	10	32	a	a	DET
hls-13440	10	33	novel	novel	ADJ
hls-13440	10	34	clinical	clinical	ADJ
hls-13440	10	35	manifestation	manifestation	NOUN
hls-13440	10	36	linked	link	VERB
hls-13440	10	37	to	to	ADP
hls-13440	10	38	an	an	DET
hls-13440	10	39	hpdl	hpdl	NOUN
hls-13440	10	40	mutation	mutation	NOUN
hls-13440	10	41	.	.	PUNCT
hls-13440	11	1	comprehending	comprehend	VERB
hls-13440	11	2	these	these	DET
hls-13440	11	3	genetic	genetic	ADJ
hls-13440	11	4	foundations	foundation	NOUN
hls-13440	11	5	is	be	AUX
hls-13440	11	6	essential	essential	ADJ
hls-13440	11	7	for	for	ADP
hls-13440	11	8	enhancing	enhance	VERB
hls-13440	11	9	diagnostic	diagnostic	ADJ
hls-13440	11	10	precision	precision	NOUN
hls-13440	11	11	and	and	CCONJ
hls-13440	11	12	possibly	possibly	ADV
hls-13440	11	13	directing	direct	VERB
hls-13440	11	14	treatment	treatment	NOUN
hls-13440	11	15	approaches	approach	NOUN
hls-13440	11	16	in	in	ADP
hls-13440	11	17	the	the	DET
hls-13440	11	18	future	future	NOUN
hls-13440	11	19	.	.	PUNCT
hls-13440	12	1	this	this	DET
hls-13440	12	2	study	study	NOUN
hls-13440	12	3	was	be	AUX
hls-13440	12	4	approved	approve	VERB
hls-13440	12	5	by	by	ADP
hls-13440	12	6	the	the	DET
hls-13440	12	7	ethics	ethic	NOUN
hls-13440	12	8	committee	committee	PROPN
hls-13440	12	9	of	of	ADP
hls-13440	12	10	maternity	maternity	NOUN
hls-13440	12	11	and	and	CCONJ
hls-13440	12	12	children	child	NOUN
hls-13440	12	13	’s	’s	PART
hls-13440	12	14	hospital	hospital	NOUN
hls-13440	12	15	–	–	PUNCT
hls-13440	12	16	al	al	PROPN
hls-13440	12	17	ahsa	ahsa	NOUN
hls-13440	12	18	,	,	PUNCT
hls-13440	12	19	with	with	ADP
hls-13440	12	20	the	the	DET
hls-13440	12	21	irb	irb	PROPN
hls-13440	12	22	reference	reference	NOUN
hls-13440	12	23	number	number	NOUN
hls-13440	12	24	(	(	PUNCT
hls-13440	12	25	h-05	h-05	PROPN
hls-13440	12	26	-	-	PUNCT
hls-13440	12	27	hs137	hs137	PROPN
hls-13440	12	28	)	)	PUNCT
hls-13440	12	29	.	.	PUNCT
hls-13440	13	1	written	write	VERB
hls-13440	13	2	informed	informed	ADJ
hls-13440	13	3	consent	consent	NOUN
hls-13440	13	4	was	be	AUX
hls-13440	13	5	obtained	obtain	VERB
hls-13440	13	6	from	from	ADP
hls-13440	13	7	the	the	DET
hls-13440	13	8	father	father	NOUN
hls-13440	13	9	.	.	PUNCT
hls-13440	14	1	case	case	NOUN
hls-13440	14	2	report	report	VERB
hls-13440	14	3	hereby	hereby	ADV
hls-13440	14	4	,	,	PUNCT
hls-13440	14	5	we	we	PRON
hls-13440	14	6	report	report	VERB
hls-13440	14	7	a	a	DET
hls-13440	14	8	19	19	NUM
hls-13440	14	9	-	-	PUNCT
hls-13440	14	10	month	month	NOUN
hls-13440	14	11	-	-	PUNCT
hls-13440	14	12	old	old	ADJ
hls-13440	14	13	male	male	NOUN
hls-13440	14	14	with	with	ADP
hls-13440	14	15	global	global	ADJ
hls-13440	14	16	developmental	developmental	ADJ
hls-13440	14	17	delay	delay	NOUN
hls-13440	14	18	,	,	PUNCT
hls-13440	14	19	epilepsy	epilepsy	NOUN
hls-13440	14	20	,	,	PUNCT
hls-13440	14	21	laryngomalacia	laryngomalacia	NOUN
hls-13440	14	22	,	,	PUNCT
hls-13440	14	23	s	s	NOUN
hls-13440	14	24	/	/	SYM
hls-13440	14	25	p	p	NOUN
hls-13440	14	26	arytenoidectomy	arytenoidectomy	NOUN
hls-13440	14	27	,	,	PUNCT
hls-13440	14	28	swallowing	swallow	VERB
hls-13440	14	29	dysfunction	dysfunction	NOUN
hls-13440	14	30	,	,	PUNCT
hls-13440	14	31	spasticity	spasticity	NOUN
hls-13440	14	32	,	,	PUNCT
hls-13440	14	33	thin	thin	ADJ
hls-13440	14	34	corpus	corpus	NOUN
hls-13440	14	35	callosum	callosum	NOUN
hls-13440	14	36	on	on	ADP
hls-13440	14	37	mri	mri	NOUN
hls-13440	14	38	brain	brain	NOUN
hls-13440	14	39	,	,	PUNCT
hls-13440	14	40	and	and	CCONJ
hls-13440	14	41	confirmed	confirm	VERB
hls-13440	14	42	homozygous	homozygous	ADJ
hls-13440	14	43	hpdl	hpdl	NOUN
hls-13440	14	44	gene	gene	NOUN
hls-13440	14	45	mutation	mutation	NOUN
hls-13440	14	46	on	on	ADP
hls-13440	14	47	genetic	genetic	ADJ
hls-13440	14	48	testing	testing	NOUN
hls-13440	14	49	.	.	PUNCT
hls-13440	15	1	detailed	detailed	ADJ
hls-13440	15	2	history	history	NOUN
hls-13440	15	3	taking	taking	NOUN
hls-13440	15	4	reveals	reveal	VERB
hls-13440	15	5	a	a	DET
hls-13440	15	6	full	full	ADJ
hls-13440	15	7	-	-	PUNCT
hls-13440	15	8	term	term	NOUN
hls-13440	15	9	male	male	NOUN
hls-13440	15	10	infant	infant	NOUN
hls-13440	15	11	who	who	PRON
hls-13440	15	12	was	be	AUX
hls-13440	15	13	born	bear	VERB
hls-13440	15	14	at	at	ADP
hls-13440	15	15	38	38	NUM
hls-13440	15	16	weeks	week	NOUN
hls-13440	15	17	of	of	ADP
hls-13440	15	18	gestation	gestation	NOUN
hls-13440	15	19	to	to	PART
hls-13440	15	20	healthy	healthy	ADJ
hls-13440	15	21	first	first	ADJ
hls-13440	15	22	-	-	PUNCT
hls-13440	15	23	degree	degree	NOUN
hls-13440	15	24	cousins	cousin	NOUN
hls-13440	15	25	.	.	PUNCT
hls-13440	16	1	the	the	DET
hls-13440	16	2	course	course	NOUN
hls-13440	16	3	of	of	ADP
hls-13440	16	4	the	the	DET
hls-13440	16	5	pregnancy	pregnancy	NOUN
hls-13440	16	6	was	be	AUX
hls-13440	16	7	uneventful	uneventful	ADJ
hls-13440	16	8	.	.	PUNCT
hls-13440	17	1	apgar	apgar	ADJ
hls-13440	17	2	score	score	NOUN
hls-13440	17	3	was	be	AUX
hls-13440	17	4	eight	eight	NUM
hls-13440	17	5	at	at	ADP
hls-13440	17	6	1	1	NUM
hls-13440	17	7	minute	minute	NOUN
hls-13440	17	8	and	and	CCONJ
hls-13440	17	9	5	5	NUM
hls-13440	17	10	minutes	minute	NOUN
hls-13440	17	11	.	.	PUNCT
hls-13440	18	1	the	the	DET
hls-13440	18	2	delivery	delivery	NOUN
hls-13440	18	3	was	be	AUX
hls-13440	18	4	complicated	complicate	VERB
hls-13440	18	5	by	by	ADP
hls-13440	18	6	meconium	meconium	NOUN
hls-13440	18	7	-	-	PUNCT
hls-13440	18	8	stained	stain	VERB
hls-13440	18	9	amniotic	amniotic	ADJ
hls-13440	18	10	fluid	fluid	NOUN
hls-13440	18	11	,	,	PUNCT
hls-13440	18	12	leading	lead	VERB
hls-13440	18	13	to	to	ADP
hls-13440	18	14	respiratory	respiratory	ADJ
hls-13440	18	15	distress	distress	NOUN
hls-13440	18	16	that	that	PRON
hls-13440	18	17	resolved	resolve	VERB
hls-13440	18	18	post	post	NOUN
hls-13440	18	19	-	-	NOUN
hls-13440	18	20	delivery	delivery	NOUN
hls-13440	18	21	.	.	PUNCT
hls-13440	19	1	at	at	ADP
hls-13440	19	2	birth	birth	NOUN
hls-13440	19	3	,	,	PUNCT
hls-13440	19	4	the	the	DET
hls-13440	19	5	infant	infant	NOUN
hls-13440	19	6	presented	present	VERB
hls-13440	19	7	with	with	ADP
hls-13440	19	8	several	several	ADJ
hls-13440	19	9	dysmorphic	dysmorphic	ADJ
hls-13440	19	10	features	feature	NOUN
hls-13440	19	11	,	,	PUNCT
hls-13440	19	12	including	include	VERB
hls-13440	19	13	low	low	ADJ
hls-13440	19	14	-	-	PUNCT
hls-13440	19	15	set	set	VERB
hls-13440	19	16	ears	ear	NOUN
hls-13440	19	17	,	,	PUNCT
hls-13440	19	18	a	a	DET
hls-13440	19	19	depressed	depressed	ADJ
hls-13440	19	20	nasal	nasal	NOUN
hls-13440	19	21	bridge	bridge	PROPN
hls-13440	19	22	,	,	PUNCT
hls-13440	19	23	micrognathia	micrognathia	PROPN
hls-13440	19	24	,	,	PUNCT
hls-13440	19	25	clinodactyly	clinodactyly	ADV
hls-13440	19	26	,	,	PUNCT
hls-13440	19	27	fixed	fix	VERB
hls-13440	19	28	flexion	flexion	NOUN
hls-13440	19	29	of	of	ADP
hls-13440	19	30	the	the	DET
hls-13440	19	31	proximal	proximal	ADJ
hls-13440	19	32	interphalangeal	interphalangeal	ADJ
hls-13440	19	33	joints	joint	NOUN
hls-13440	19	34	of	of	ADP
hls-13440	19	35	the	the	DET
hls-13440	19	36	4th	4th	ADJ
hls-13440	19	37	fingers	finger	NOUN
hls-13440	19	38	bilaterally	bilaterally	ADV
hls-13440	19	39	,	,	PUNCT
hls-13440	19	40	and	and	CCONJ
hls-13440	19	41	rocker	rocker	NOUN
hls-13440	19	42	-	-	PUNCT
hls-13440	19	43	bottom	bottom	ADJ
hls-13440	19	44	feet	foot	NOUN
hls-13440	19	45	.	.	PUNCT
hls-13440	20	1	the	the	DET
hls-13440	20	2	family	family	NOUN
hls-13440	20	3	consists	consist	VERB
hls-13440	20	4	of	of	ADP
hls-13440	20	5	nine	nine	NUM
hls-13440	20	6	children	child	NOUN
hls-13440	20	7	in	in	ADP
hls-13440	20	8	total	total	NOUN
hls-13440	20	9	,	,	PUNCT
hls-13440	20	10	including	include	VERB
hls-13440	20	11	the	the	DET
hls-13440	20	12	patient	patient	NOUN
hls-13440	20	13	,	,	PUNCT
hls-13440	20	14	who	who	PRON
hls-13440	20	15	is	be	AUX
hls-13440	20	16	the	the	DET
hls-13440	20	17	only	only	ADJ
hls-13440	20	18	one	one	NUM
hls-13440	20	19	currently	currently	ADV
hls-13440	20	20	confirmed	confirm	VERB
hls-13440	20	21	to	to	PART
hls-13440	20	22	have	have	VERB
hls-13440	20	23	the	the	DET
hls-13440	20	24	disease	disease	NOUN
hls-13440	20	25	.	.	PUNCT
hls-13440	21	1	two	two	NUM
hls-13440	21	2	of	of	ADP
hls-13440	21	3	the	the	DET
hls-13440	21	4	siblings	sibling	NOUN
hls-13440	21	5	,	,	PUNCT
hls-13440	21	6	previously	previously	ADV
hls-13440	21	7	diagnosed	diagnose	VERB
hls-13440	21	8	with	with	ADP
hls-13440	21	9	idiopathic	idiopathic	ADJ
hls-13440	21	10	brain	brain	NOUN
hls-13440	21	11	atrophy	atrophy	NOUN
hls-13440	21	12	of	of	ADP
hls-13440	21	13	unknown	unknown	ADJ
hls-13440	21	14	etiology	etiology	NOUN
hls-13440	21	15	,	,	PUNCT
hls-13440	21	16	are	be	AUX
hls-13440	21	17	deceased	deceased	ADJ
hls-13440	21	18	.	.	PUNCT
hls-13440	22	1	the	the	DET
hls-13440	22	2	remaining	remain	VERB
hls-13440	22	3	six	six	NUM
hls-13440	22	4	children	child	NOUN
hls-13440	22	5	are	be	AUX
hls-13440	22	6	alive	alive	ADJ
hls-13440	22	7	and	and	CCONJ
hls-13440	22	8	exhibit	exhibit	VERB
hls-13440	22	9	normal	normal	ADJ
hls-13440	22	10	neurodevelopment	neurodevelopment	ADJ
hls-13440	22	11	.	.	PUNCT
hls-13440	23	1	whole	whole	ADJ
hls-13440	23	2	exome	exome	NOUN
hls-13440	23	3	sequencing	sequence	VERB
hls-13440	23	4	(	(	PUNCT
hls-13440	23	5	wes	wes	PROPN
hls-13440	23	6	)	)	PUNCT
hls-13440	23	7	has	have	AUX
hls-13440	23	8	not	not	PART
hls-13440	23	9	been	be	AUX
hls-13440	23	10	performed	perform	VERB
hls-13440	23	11	on	on	ADP
hls-13440	23	12	any	any	PRON
hls-13440	23	13	of	of	ADP
hls-13440	23	14	the	the	DET
hls-13440	23	15	children	child	NOUN
hls-13440	23	16	.	.	PUNCT
hls-13440	24	1	initial	initial	ADJ
hls-13440	24	2	physical	physical	ADJ
hls-13440	24	3	examination	examination	NOUN
hls-13440	24	4	showed	show	VERB
hls-13440	24	5	dysmorphic	dysmorphic	ADJ
hls-13440	24	6	infant	infant	NOUN
hls-13440	24	7	vitally	vitally	ADV
hls-13440	24	8	correspondence	correspondence	NOUN
hls-13440	24	9	:	:	PUNCT
hls-13440	24	10	nadia	nadia	PROPN
hls-13440	24	11	jradi	jradi	PROPN
hls-13440	24	12	,	,	PUNCT
hls-13440	24	13	department	department	NOUN
hls-13440	24	14	of	of	ADP
hls-13440	24	15	pediatrics	pediatric	NOUN
hls-13440	24	16	,	,	PUNCT
hls-13440	24	17	college	college	NOUN
hls-13440	24	18	of	of	ADP
hls-13440	24	19	medicine	medicine	NOUN
hls-13440	24	20	,	,	PUNCT
hls-13440	24	21	king	king	NOUN
hls-13440	24	22	faisal	faisal	PROPN
hls-13440	24	23	university	university	PROPN
hls-13440	24	24	,	,	PUNCT
hls-13440	24	25	al	al	PROPN
hls-13440	24	26	-	-	PUNCT
hls-13440	24	27	ahsa	ahsa	PROPN
hls-13440	24	28	,	,	PUNCT
hls-13440	24	29	saudi	saudi	PROPN
hls-13440	24	30	arabia	arabia	PROPN
hls-13440	24	31	tel	tel	PROPN
hls-13440	24	32	.	.	PUNCT
hls-13440	24	33	:	:	PUNCT
hls-13440	25	1	+966.569208088	+966.569208088	X
hls-13440	25	2	.	.	PUNCT
hls-13440	26	1	e	e	X
hls-13440	26	2	-	-	NOUN
hls-13440	26	3	mail	mail	NOUN
hls-13440	26	4	:	:	PUNCT
hls-13440	26	5	nadia.jradi@kfu.edu.sa	nadia.jradi@kfu.edu.sa	PROPN
hls-13440	26	6	key	key	ADJ
hls-13440	26	7	words	word	NOUN
hls-13440	26	8	:	:	PUNCT
hls-13440	26	9	hpdl	hpdl	ADJ
hls-13440	26	10	gene	gene	NOUN
hls-13440	26	11	mutation	mutation	NOUN
hls-13440	26	12	,	,	PUNCT
hls-13440	26	13	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	26	14	delay	delay	NOUN
hls-13440	26	15	,	,	PUNCT
hls-13440	26	16	spasticity	spasticity	NOUN
hls-13440	26	17	,	,	PUNCT
hls-13440	26	18	hypotonia	hypotonia	NOUN
hls-13440	26	19	,	,	PUNCT
hls-13440	26	20	genetic	genetic	ADJ
hls-13440	26	21	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	26	22	disorders	disorder	NOUN
hls-13440	26	23	.	.	PUNCT
hls-13440	27	1	conflict	conflict	NOUN
hls-13440	27	2	of	of	ADP
hls-13440	27	3	interest	interest	NOUN
hls-13440	27	4	:	:	PUNCT
hls-13440	27	5	the	the	DET
hls-13440	27	6	authors	author	NOUN
hls-13440	27	7	do	do	AUX
hls-13440	27	8	not	not	PART
hls-13440	27	9	have	have	VERB
hls-13440	27	10	any	any	DET
hls-13440	27	11	conflict	conflict	NOUN
hls-13440	27	12	of	of	ADP
hls-13440	27	13	interest	interest	NOUN
hls-13440	27	14	or	or	CCONJ
hls-13440	27	15	funding	funding	NOUN
hls-13440	27	16	source	source	NOUN
hls-13440	27	17	to	to	PART
hls-13440	27	18	declare	declare	VERB
hls-13440	27	19	.	.	PUNCT
hls-13440	28	1	ethics	ethic	NOUN
hls-13440	28	2	approval	approval	NOUN
hls-13440	28	3	and	and	CCONJ
hls-13440	28	4	informed	informed	ADJ
hls-13440	28	5	consent	consent	NOUN
hls-13440	28	6	to	to	PART
hls-13440	28	7	participate	participate	VERB
hls-13440	28	8	:	:	PUNCT
hls-13440	28	9	this	this	DET
hls-13440	28	10	study	study	NOUN
hls-13440	28	11	was	be	AUX
hls-13440	28	12	approved	approve	VERB
hls-13440	28	13	by	by	ADP
hls-13440	28	14	the	the	DET
hls-13440	28	15	ethics	ethic	NOUN
hls-13440	28	16	committee	committee	PROPN
hls-13440	28	17	of	of	ADP
hls-13440	28	18	maternity	maternity	NOUN
hls-13440	28	19	and	and	CCONJ
hls-13440	28	20	children	child	NOUN
hls-13440	28	21	’s	’s	PART
hls-13440	28	22	hospital	hospital	NOUN
hls-13440	28	23	–	–	PUNCT
hls-13440	28	24	al	al	PROPN
hls-13440	28	25	ahsa	ahsa	NOUN
hls-13440	28	26	,	,	PUNCT
hls-13440	28	27	with	with	ADP
hls-13440	28	28	the	the	DET
hls-13440	28	29	irb	irb	PROPN
hls-13440	28	30	reference	reference	NOUN
hls-13440	28	31	number	number	NOUN
hls-13440	28	32	(	(	PUNCT
hls-13440	28	33	h-05	h-05	PROPN
hls-13440	28	34	-	-	PUNCT
hls-13440	28	35	hs-137	hs-137	PROPN
hls-13440	28	36	)	)	PUNCT
hls-13440	28	37	.	.	PUNCT
hls-13440	29	1	written	write	VERB
hls-13440	29	2	informed	informed	ADJ
hls-13440	29	3	consent	consent	NOUN
hls-13440	29	4	was	be	AUX
hls-13440	29	5	obtained	obtain	VERB
hls-13440	29	6	from	from	ADP
hls-13440	29	7	the	the	DET
hls-13440	29	8	father	father	NOUN
hls-13440	29	9	.	.	PUNCT
hls-13440	30	1	availability	availability	NOUN
hls-13440	30	2	of	of	ADP
hls-13440	30	3	data	datum	NOUN
hls-13440	30	4	and	and	CCONJ
hls-13440	30	5	materials	material	NOUN
hls-13440	30	6	:	:	PUNCT
hls-13440	30	7	all	all	DET
hls-13440	30	8	data	datum	NOUN
hls-13440	30	9	underlying	underlie	VERB
hls-13440	30	10	the	the	DET
hls-13440	30	11	findings	finding	NOUN
hls-13440	30	12	are	be	AUX
hls-13440	30	13	fully	fully	ADV
hls-13440	30	14	available	available	ADJ
hls-13440	30	15	.	.	PUNCT
hls-13440	31	1	received	receive	VERB
hls-13440	31	2	:	:	PUNCT
hls-13440	31	3	29	29	NUM
hls-13440	31	4	november	november	PROPN
hls-13440	31	5	2024	2024	NUM
hls-13440	31	6	.	.	PUNCT
hls-13440	32	1	accepted	accept	VERB
hls-13440	32	2	:	:	PUNCT
hls-13440	32	3	10	10	NUM
hls-13440	32	4	june	june	PROPN
hls-13440	32	5	2025	2025	NUM
hls-13440	32	6	.	.	PUNCT
hls-13440	33	1	early	early	ADJ
hls-13440	33	2	access	access	NOUN
hls-13440	33	3	:	:	PUNCT
hls-13440	33	4	8	8	NUM
hls-13440	33	5	september	september	PROPN
hls-13440	33	6	2025	2025	NUM
hls-13440	33	7	.	.	PUNCT
hls-13440	34	1	this	this	DET
hls-13440	34	2	work	work	NOUN
hls-13440	34	3	is	be	AUX
hls-13440	34	4	licensed	license	VERB
hls-13440	34	5	under	under	ADP
hls-13440	34	6	a	a	DET
hls-13440	34	7	creative	creative	ADJ
hls-13440	34	8	commons	common	NOUN
hls-13440	34	9	attribution	attribution	NOUN
hls-13440	34	10	4.0	4.0	NUM
hls-13440	34	11	license	license	NOUN
hls-13440	34	12	(	(	PUNCT
hls-13440	34	13	by	by	ADP
hls-13440	34	14	-	-	PUNCT
hls-13440	34	15	nc	nc	PROPN
hls-13440	34	16	4.0	4.0	NUM
hls-13440	34	17	)	)	PUNCT
hls-13440	34	18	.	.	PUNCT
hls-13440	35	1	©	©	PROPN
hls-13440	35	2	copyright	copyright	NOUN
hls-13440	35	3	:	:	PUNCT
hls-13440	35	4	the	the	DET
hls-13440	35	5	author(s	author(s	PROPN
hls-13440	35	6	)	)	PUNCT
hls-13440	35	7	,	,	PUNCT
hls-13440	35	8	2025	2025	NUM
hls-13440	35	9	licensee	licensee	NOUN
hls-13440	35	10	pagepress	pagepress	NOUN
hls-13440	35	11	,	,	PUNCT
hls-13440	35	12	italy	italy	PROPN
hls-13440	35	13	healthcare	healthcare	PROPN
hls-13440	35	14	in	in	ADP
hls-13440	35	15	low	low	ADJ
hls-13440	35	16	-	-	PUNCT
hls-13440	35	17	resource	resource	NOUN
hls-13440	35	18	settings	setting	NOUN
hls-13440	35	19	2025	2025	NUM
hls-13440	35	20	;	;	PUNCT
hls-13440	35	21	13:13440	13:13440	NUM
hls-13440	35	22	doi:10.4081	doi:10.4081	NOUN
hls-13440	35	23	/	/	SYM
hls-13440	35	24	hls.2025.13440	hls.2025.13440	PRON
hls-13440	35	25	publisher	publisher	NOUN
hls-13440	35	26	's	's	PART
hls-13440	35	27	note	note	NOUN
hls-13440	35	28	:	:	PUNCT
hls-13440	35	29	all	all	DET
hls-13440	35	30	claims	claim	NOUN
hls-13440	35	31	expressed	express	VERB
hls-13440	35	32	in	in	ADP
hls-13440	35	33	this	this	DET
hls-13440	35	34	article	article	NOUN
hls-13440	35	35	are	be	AUX
hls-13440	35	36	solely	solely	ADV
hls-13440	35	37	those	those	PRON
hls-13440	35	38	of	of	ADP
hls-13440	35	39	the	the	DET
hls-13440	35	40	authors	author	NOUN
hls-13440	35	41	and	and	CCONJ
hls-13440	35	42	do	do	AUX
hls-13440	35	43	not	not	PART
hls-13440	35	44	necessarily	necessarily	ADV
hls-13440	35	45	represent	represent	VERB
hls-13440	35	46	those	those	PRON
hls-13440	35	47	of	of	ADP
hls-13440	35	48	their	their	PRON
hls-13440	35	49	affiliated	affiliated	ADJ
hls-13440	35	50	organizations	organization	NOUN
hls-13440	35	51	,	,	PUNCT
hls-13440	35	52	or	or	CCONJ
hls-13440	35	53	those	those	PRON
hls-13440	35	54	of	of	ADP
hls-13440	35	55	the	the	DET
hls-13440	35	56	publisher	publisher	NOUN
hls-13440	35	57	,	,	PUNCT
hls-13440	35	58	the	the	DET
hls-13440	35	59	editors	editor	NOUN
hls-13440	35	60	and	and	CCONJ
hls-13440	35	61	the	the	DET
hls-13440	35	62	reviewers	reviewer	NOUN
hls-13440	35	63	.	.	PUNCT
hls-13440	36	1	any	any	DET
hls-13440	36	2	product	product	NOUN
hls-13440	36	3	that	that	PRON
hls-13440	36	4	may	may	AUX
hls-13440	36	5	be	be	AUX
hls-13440	36	6	evaluated	evaluate	VERB
hls-13440	36	7	in	in	ADP
hls-13440	36	8	this	this	DET
hls-13440	36	9	article	article	NOUN
hls-13440	36	10	or	or	CCONJ
hls-13440	36	11	claim	claim	NOUN
hls-13440	36	12	that	that	PRON
hls-13440	36	13	may	may	AUX
hls-13440	36	14	be	be	AUX
hls-13440	36	15	made	make	VERB
hls-13440	36	16	by	by	ADP
hls-13440	36	17	its	its	PRON
hls-13440	36	18	manufacturer	manufacturer	NOUN
hls-13440	36	19	is	be	AUX
hls-13440	36	20	not	not	PART
hls-13440	36	21	guaranteed	guarantee	VERB
hls-13440	36	22	or	or	CCONJ
hls-13440	36	23	endorsed	endorse	VERB
hls-13440	36	24	by	by	ADP
hls-13440	36	25	the	the	DET
hls-13440	36	26	publisher	publisher	NOUN
hls-13440	36	27	.	.	PUNCT
hls-13440	37	1	[	[	X
hls-13440	37	2	page	page	NOUN
hls-13440	37	3	244	244	NUM
hls-13440	37	4	]	]	PUNCT
hls-13440	38	1	[	[	X
hls-13440	38	2	healthcare	healthcare	NOUN
hls-13440	38	3	in	in	ADP
hls-13440	38	4	low	low	ADJ
hls-13440	38	5	-	-	PUNCT
hls-13440	38	6	resource	resource	NOUN
hls-13440	38	7	settings	setting	NOUN
hls-13440	38	8	2025;13:13440	2025;13:13440	NUM
hls-13440	38	9	]	]	PUNCT
hls-13440	38	10	stable	stable	ADJ
hls-13440	38	11	.	.	PUNCT
hls-13440	39	1	cns	cns	PROPN
hls-13440	39	2	examination	examination	NOUN
hls-13440	39	3	showed	show	VERB
hls-13440	39	4	open	open	ADJ
hls-13440	39	5	anterior	anterior	ADJ
hls-13440	39	6	fontanelle	fontanelle	NOUN
hls-13440	39	7	,	,	PUNCT
hls-13440	39	8	a	a	DET
hls-13440	39	9	head	head	NOUN
hls-13440	39	10	circumference	circumference	NOUN
hls-13440	39	11	of	of	ADP
hls-13440	39	12	36	36	NUM
hls-13440	39	13	cm	cm	NOUN
hls-13440	39	14	,	,	PUNCT
hls-13440	39	15	high	high	ADJ
hls-13440	39	16	muscle	muscle	NOUN
hls-13440	39	17	tone	tone	NOUN
hls-13440	39	18	(	(	PUNCT
hls-13440	39	19	spasticity	spasticity	NOUN
hls-13440	39	20	)	)	PUNCT
hls-13440	39	21	in	in	ADP
hls-13440	39	22	all	all	DET
hls-13440	39	23	extremities	extremity	NOUN
hls-13440	39	24	,	,	PUNCT
hls-13440	39	25	axial	axial	ADJ
hls-13440	39	26	hypotonia	hypotonia	NOUN
hls-13440	39	27	,	,	PUNCT
hls-13440	39	28	asymmetrical	asymmetrical	ADJ
hls-13440	39	29	moro	moro	PROPN
hls-13440	39	30	reflex	reflex	NOUN
hls-13440	39	31	(	(	PUNCT
hls-13440	39	32	sluggish	sluggish	ADJ
hls-13440	39	33	on	on	ADP
hls-13440	39	34	the	the	DET
hls-13440	39	35	left	left	ADJ
hls-13440	39	36	side	side	NOUN
hls-13440	39	37	)	)	PUNCT
hls-13440	39	38	intact	intact	ADJ
hls-13440	39	39	,	,	PUNCT
hls-13440	39	40	sucking	sucking	NOUN
hls-13440	39	41	,	,	PUNCT
hls-13440	39	42	palmar	palmar	NOUN
hls-13440	39	43	,	,	PUNCT
hls-13440	39	44	and	and	CCONJ
hls-13440	39	45	plantar	plantar	NOUN
hls-13440	39	46	reflexes	reflex	NOUN
hls-13440	39	47	.	.	PUNCT
hls-13440	40	1	left	leave	VERB
hls-13440	40	2	upper	upper	ADJ
hls-13440	40	3	limb	limb	NOUN
hls-13440	40	4	internally	internally	ADV
hls-13440	40	5	rotated	rotate	VERB
hls-13440	40	6	,	,	PUNCT
hls-13440	40	7	extended	extend	VERB
hls-13440	40	8	at	at	ADP
hls-13440	40	9	the	the	DET
hls-13440	40	10	elbow	elbow	NOUN
hls-13440	40	11	,	,	PUNCT
hls-13440	40	12	flexed	flex	VERB
hls-13440	40	13	at	at	ADP
hls-13440	40	14	the	the	DET
hls-13440	40	15	wrist	wrist	NOUN
hls-13440	40	16	with	with	ADP
hls-13440	40	17	reduced	reduce	VERB
hls-13440	40	18	movement	movement	NOUN
hls-13440	40	19	.	.	PUNCT
hls-13440	41	1	all	all	DET
hls-13440	41	2	other	other	ADJ
hls-13440	41	3	extremities	extremity	NOUN
hls-13440	41	4	moved	move	VERB
hls-13440	41	5	freely	freely	ADV
hls-13440	41	6	.	.	PUNCT
hls-13440	42	1	chest	chest	NOUN
hls-13440	42	2	,	,	PUNCT
hls-13440	42	3	cardiovascular	cardiovascular	ADJ
hls-13440	42	4	,	,	PUNCT
hls-13440	42	5	and	and	CCONJ
hls-13440	42	6	gastrointestinal	gastrointestinal	ADJ
hls-13440	42	7	were	be	AUX
hls-13440	42	8	normal	normal	ADJ
hls-13440	42	9	.	.	PUNCT
hls-13440	43	1	laboratory	laboratory	NOUN
hls-13440	43	2	tests	test	NOUN
hls-13440	43	3	were	be	AUX
hls-13440	43	4	unremarkable	unremarkable	ADJ
hls-13440	43	5	.	.	PUNCT
hls-13440	44	1	cranial	cranial	ADJ
hls-13440	44	2	ultrasound	ultrasound	NOUN
hls-13440	44	3	and	and	CCONJ
hls-13440	44	4	brain	brain	NOUN
hls-13440	44	5	mri	mri	NOUN
hls-13440	44	6	showed	show	VERB
hls-13440	44	7	a	a	DET
hls-13440	44	8	bilateral	bilateral	ADJ
hls-13440	44	9	germinal	germinal	ADJ
hls-13440	44	10	matrix	matrix	NOUN
hls-13440	44	11	subependymal	subependymal	ADJ
hls-13440	44	12	cyst	cyst	NOUN
hls-13440	44	13	.	.	PUNCT
hls-13440	45	1	no	no	DET
hls-13440	45	2	white	white	ADJ
hls-13440	45	3	matter	matter	NOUN
hls-13440	45	4	abnormalities	abnormality	NOUN
hls-13440	45	5	were	be	AUX
hls-13440	45	6	detected	detect	VERB
hls-13440	45	7	.	.	PUNCT
hls-13440	46	1	eeg	eeg	PROPN
hls-13440	46	2	showed	show	VERB
hls-13440	46	3	no	no	DET
hls-13440	46	4	evidence	evidence	NOUN
hls-13440	46	5	of	of	ADP
hls-13440	46	6	epileptiform	epileptiform	NOUN
hls-13440	46	7	discharge	discharge	NOUN
hls-13440	46	8	.	.	PUNCT
hls-13440	47	1	in	in	ADP
hls-13440	47	2	the	the	DET
hls-13440	47	3	first	first	ADJ
hls-13440	47	4	month	month	NOUN
hls-13440	47	5	,	,	PUNCT
hls-13440	47	6	the	the	DET
hls-13440	47	7	patient	patient	NOUN
hls-13440	47	8	had	have	VERB
hls-13440	47	9	axial	axial	ADJ
hls-13440	47	10	hypotonia	hypotonia	NOUN
hls-13440	47	11	,	,	PUNCT
hls-13440	47	12	poor	poor	ADJ
hls-13440	47	13	head	head	NOUN
hls-13440	47	14	control	control	NOUN
hls-13440	47	15	,	,	PUNCT
hls-13440	47	16	loss	loss	NOUN
hls-13440	47	17	of	of	ADP
hls-13440	47	18	ocular	ocular	ADJ
hls-13440	47	19	,	,	PUNCT
hls-13440	47	20	pursuit	pursuit	NOUN
hls-13440	47	21	and	and	CCONJ
hls-13440	47	22	mild	mild	ADJ
hls-13440	47	23	peripheral	peripheral	ADJ
hls-13440	47	24	spasticity	spasticity	NOUN
hls-13440	47	25	.	.	PUNCT
hls-13440	48	1	by	by	ADP
hls-13440	48	2	the	the	DET
hls-13440	48	3	second	second	ADJ
hls-13440	48	4	month	month	NOUN
hls-13440	48	5	,	,	PUNCT
hls-13440	48	6	it	it	PRON
hls-13440	48	7	was	be	AUX
hls-13440	48	8	noted	note	VERB
hls-13440	48	9	to	to	PART
hls-13440	48	10	have	have	VERB
hls-13440	48	11	micrognathia	micrognathia	NOUN
hls-13440	48	12	,	,	PUNCT
hls-13440	48	13	microcephaly	microcephaly	NOUN
hls-13440	48	14	(	(	PUNCT
hls-13440	48	15	37	37	NUM
hls-13440	48	16	cm	cm	NOUN
hls-13440	48	17	)	)	PUNCT
hls-13440	48	18	,	,	PUNCT
hls-13440	48	19	peripheral	peripheral	ADJ
hls-13440	48	20	spasticity	spasticity	NOUN
hls-13440	48	21	,	,	PUNCT
hls-13440	48	22	and	and	CCONJ
hls-13440	48	23	central	central	ADJ
hls-13440	48	24	hypotonia	hypotonia	NOUN
hls-13440	48	25	.	.	PUNCT
hls-13440	49	1	he	he	PRON
hls-13440	49	2	developed	develop	VERB
hls-13440	49	3	recurrent	recurrent	ADJ
hls-13440	49	4	episodes	episode	NOUN
hls-13440	49	5	of	of	ADP
hls-13440	49	6	convulsions	convulsion	NOUN
hls-13440	49	7	,	,	PUNCT
hls-13440	49	8	apnea	apnea	NOUN
hls-13440	49	9	,	,	PUNCT
hls-13440	49	10	stridor	stridor	NOUN
hls-13440	49	11	,	,	PUNCT
hls-13440	49	12	and	and	CCONJ
hls-13440	49	13	cyanosis	cyanosis	NOUN
hls-13440	49	14	.	.	PUNCT
hls-13440	50	1	convulsions	convulsion	NOUN
hls-13440	50	2	were	be	AUX
hls-13440	50	3	in	in	ADP
hls-13440	50	4	the	the	DET
hls-13440	50	5	form	form	NOUN
hls-13440	50	6	of	of	ADP
hls-13440	50	7	generalized	generalized	ADJ
hls-13440	50	8	tonic	tonic	NOUN
hls-13440	50	9	-	-	PUNCT
hls-13440	50	10	clonic	clonic	NOUN
hls-13440	50	11	movements	movement	NOUN
hls-13440	50	12	.	.	PUNCT
hls-13440	51	1	the	the	DET
hls-13440	51	2	eeg	eeg	PROPN
hls-13440	51	3	background	background	NOUN
hls-13440	51	4	shows	show	VERB
hls-13440	51	5	diffuse	diffuse	VERB
hls-13440	51	6	slow	slow	ADJ
hls-13440	51	7	2	2	NUM
hls-13440	51	8	-	-	SYM
hls-13440	51	9	3	3	NUM
hls-13440	51	10	hz	hz	VERB
hls-13440	51	11	delta	delta	NOUN
hls-13440	51	12	activity	activity	NOUN
hls-13440	51	13	,	,	PUNCT
hls-13440	51	14	indicating	indicate	VERB
hls-13440	51	15	a	a	DET
hls-13440	51	16	non	non	ADJ
hls-13440	51	17	-	-	ADJ
hls-13440	51	18	epileptiform	epileptiform	ADJ
hls-13440	51	19	pattern	pattern	NOUN
hls-13440	51	20	.	.	PUNCT
hls-13440	52	1	the	the	DET
hls-13440	52	2	patient	patient	NOUN
hls-13440	52	3	was	be	AUX
hls-13440	52	4	then	then	ADV
hls-13440	52	5	started	start	VERB
hls-13440	52	6	on	on	ADP
hls-13440	52	7	phenobarbitone	phenobarbitone	NOUN
hls-13440	52	8	.	.	PUNCT
hls-13440	53	1	genetic	genetic	ADJ
hls-13440	53	2	testing	testing	NOUN
hls-13440	53	3	using	use	VERB
hls-13440	53	4	whole	whole	ADJ
hls-13440	53	5	exome	exome	NOUN
hls-13440	53	6	sequencing	sequence	VERB
hls-13440	53	7	(	(	PUNCT
hls-13440	53	8	wes	wes	PROPN
hls-13440	53	9	)	)	PUNCT
hls-13440	53	10	identified	identify	VERB
hls-13440	53	11	a	a	DET
hls-13440	53	12	homozygous	homozygous	ADJ
hls-13440	53	13	likely	likely	ADJ
hls-13440	53	14	pathogenic	pathogenic	ADJ
hls-13440	53	15	variant	variant	NOUN
hls-13440	53	16	in	in	ADP
hls-13440	53	17	the	the	DET
hls-13440	53	18	hpdl	hpdl	NOUN
hls-13440	53	19	gene	gene	NOUN
hls-13440	53	20	,	,	PUNCT
hls-13440	53	21	consistent	consistent	ADJ
hls-13440	53	22	with	with	ADP
hls-13440	53	23	an	an	DET
hls-13440	53	24	autosomal	autosomal	ADJ
hls-13440	53	25	recessive	recessive	ADJ
hls-13440	53	26	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	53	27	disorder	disorder	NOUN
hls-13440	53	28	characterized	characterize	VERB
hls-13440	53	29	by	by	ADP
hls-13440	53	30	progressive	progressive	ADJ
hls-13440	53	31	spasticity	spasticity	NOUN
hls-13440	53	32	and	and	CCONJ
hls-13440	53	33	brain	brain	NOUN
hls-13440	53	34	white	white	ADJ
hls-13440	53	35	matter	matter	NOUN
hls-13440	53	36	abnormalities	abnormality	NOUN
hls-13440	53	37	.	.	PUNCT
hls-13440	54	1	the	the	DET
hls-13440	54	2	specific	specific	ADJ
hls-13440	54	3	variant	variant	NOUN
hls-13440	54	4	detected	detect	VERB
hls-13440	54	5	was	be	AUX
hls-13440	54	6	hpdl	hpdl	ADJ
hls-13440	54	7	,	,	PUNCT
hls-13440	54	8	c.788c	c.788c	PROPN
hls-13440	54	9	>	>	NOUN
hls-13440	54	10	g	g	PROPN
hls-13440	55	1	p.	p.	NOUN
hls-13440	55	2	(	(	PUNCT
hls-13440	55	3	thr263arg	thr263arg	NOUN
hls-13440	55	4	)	)	PUNCT
hls-13440	55	5	,	,	PUNCT
hls-13440	55	6	which	which	PRON
hls-13440	55	7	results	result	VERB
hls-13440	55	8	in	in	ADP
hls-13440	55	9	an	an	DET
hls-13440	55	10	amino	amino	NOUN
hls-13440	55	11	acid	acid	NOUN
hls-13440	55	12	substitution	substitution	NOUN
hls-13440	55	13	from	from	ADP
hls-13440	55	14	threonine	threonine	NOUN
hls-13440	55	15	to	to	ADP
hls-13440	55	16	arginine	arginine	NOUN
hls-13440	55	17	at	at	ADP
hls-13440	55	18	position	position	NOUN
hls-13440	55	19	263	263	NUM
hls-13440	55	20	.	.	PUNCT
hls-13440	56	1	at	at	ADP
hls-13440	56	2	four	four	NUM
hls-13440	56	3	months	month	NOUN
hls-13440	56	4	,	,	PUNCT
hls-13440	56	5	the	the	DET
hls-13440	56	6	patient	patient	NOUN
hls-13440	56	7	had	have	VERB
hls-13440	56	8	global	global	ADJ
hls-13440	56	9	developmental	developmental	ADJ
hls-13440	56	10	delay	delay	NOUN
hls-13440	56	11	and	and	CCONJ
hls-13440	56	12	microcephaly	microcephaly	NOUN
hls-13440	56	13	.	.	PUNCT
hls-13440	57	1	although	although	SCONJ
hls-13440	57	2	seizures	seizure	NOUN
hls-13440	57	3	were	be	AUX
hls-13440	57	4	controlled	control	VERB
hls-13440	57	5	,	,	PUNCT
hls-13440	57	6	the	the	DET
hls-13440	57	7	episodes	episode	NOUN
hls-13440	57	8	of	of	ADP
hls-13440	57	9	frequent	frequent	ADJ
hls-13440	57	10	episodes	episode	NOUN
hls-13440	57	11	of	of	ADP
hls-13440	57	12	apnea	apnea	NOUN
hls-13440	57	13	with	with	ADP
hls-13440	57	14	cyanosis	cyanosis	NOUN
hls-13440	57	15	and	and	CCONJ
hls-13440	57	16	stridor	stridor	NOUN
hls-13440	57	17	persisted	persist	VERB
hls-13440	57	18	.	.	PUNCT
hls-13440	58	1	the	the	DET
hls-13440	58	2	patient	patient	NOUN
hls-13440	58	3	was	be	AUX
hls-13440	58	4	then	then	ADV
hls-13440	58	5	diagnosed	diagnose	VERB
hls-13440	58	6	to	to	PART
hls-13440	58	7	have	have	VERB
hls-13440	58	8	laryngomalacia	laryngomalacia	NOUN
hls-13440	58	9	and	and	CCONJ
hls-13440	58	10	underwent	undergo	VERB
hls-13440	58	11	a	a	DET
hls-13440	58	12	micro	micro	ADJ
hls-13440	58	13	laryngoscopy	laryngoscopy	NOUN
hls-13440	58	14	with	with	ADP
hls-13440	58	15	arytenoidectomy	arytenoidectomy	NOUN
hls-13440	58	16	.	.	PUNCT
hls-13440	59	1	apnea	apnea	NOUN
hls-13440	59	2	resolved	resolve	VERB
hls-13440	59	3	after	after	ADP
hls-13440	59	4	surgery	surgery	NOUN
hls-13440	59	5	.	.	PUNCT
hls-13440	60	1	at	at	ADP
hls-13440	60	2	eight	eight	NUM
hls-13440	60	3	months	month	NOUN
hls-13440	60	4	old	old	ADJ
hls-13440	60	5	,	,	PUNCT
hls-13440	60	6	the	the	DET
hls-13440	60	7	patient	patient	NOUN
hls-13440	60	8	still	still	ADV
hls-13440	60	9	showed	show	VERB
hls-13440	60	10	profound	profound	ADJ
hls-13440	60	11	developmental	developmental	ADJ
hls-13440	60	12	delay	delay	NOUN
hls-13440	60	13	with	with	ADP
hls-13440	60	14	no	no	DET
hls-13440	60	15	social	social	ADJ
hls-13440	60	16	smile	smile	NOUN
hls-13440	60	17	,	,	PUNCT
hls-13440	60	18	no	no	DET
hls-13440	60	19	sound	sound	NOUN
hls-13440	60	20	imitation	imitation	NOUN
hls-13440	60	21	,	,	PUNCT
hls-13440	60	22	and	and	CCONJ
hls-13440	60	23	no	no	DET
hls-13440	60	24	interest	interest	NOUN
hls-13440	60	25	in	in	ADP
hls-13440	60	26	the	the	DET
hls-13440	60	27	surroundings	surrounding	NOUN
hls-13440	60	28	.	.	PUNCT
hls-13440	61	1	axial	axial	ADJ
hls-13440	61	2	hypotonia	hypotonia	NOUN
hls-13440	61	3	and	and	CCONJ
hls-13440	61	4	peripheral	peripheral	ADJ
hls-13440	61	5	spasticity	spasticity	NOUN
hls-13440	61	6	increased	increase	VERB
hls-13440	61	7	in	in	ADP
hls-13440	61	8	severity	severity	NOUN
hls-13440	61	9	,	,	PUNCT
hls-13440	61	10	with	with	ADP
hls-13440	61	11	no	no	DET
hls-13440	61	12	improvement	improvement	NOUN
hls-13440	61	13	despite	despite	SCONJ
hls-13440	61	14	regular	regular	ADJ
hls-13440	61	15	physiotherapy	physiotherapy	NOUN
hls-13440	61	16	.	.	PUNCT
hls-13440	62	1	moreover	moreover	ADV
hls-13440	62	2	,	,	PUNCT
hls-13440	62	3	the	the	DET
hls-13440	62	4	patient	patient	NOUN
hls-13440	62	5	failed	fail	VERB
hls-13440	62	6	to	to	PART
hls-13440	62	7	feed	feed	VERB
hls-13440	62	8	orally	orally	ADV
hls-13440	62	9	,	,	PUNCT
hls-13440	62	10	which	which	PRON
hls-13440	62	11	required	require	VERB
hls-13440	62	12	feeding	feeding	NOUN
hls-13440	62	13	using	use	VERB
hls-13440	62	14	a	a	DET
hls-13440	62	15	nasogastric	nasogastric	ADJ
hls-13440	62	16	tube	tube	NOUN
hls-13440	62	17	.	.	PUNCT
hls-13440	63	1	he	he	PRON
hls-13440	63	2	then	then	ADV
hls-13440	63	3	started	start	VERB
hls-13440	63	4	to	to	PART
hls-13440	63	5	show	show	VERB
hls-13440	63	6	a	a	DET
hls-13440	63	7	new	new	ADJ
hls-13440	63	8	form	form	NOUN
hls-13440	63	9	of	of	ADP
hls-13440	63	10	abnormal	abnormal	ADJ
hls-13440	63	11	movements	movement	NOUN
hls-13440	63	12	while	while	SCONJ
hls-13440	63	13	being	be	AUX
hls-13440	63	14	on	on	ADP
hls-13440	63	15	levetiracetam	levetiracetam	NOUN
hls-13440	63	16	.	.	PUNCT
hls-13440	64	1	the	the	DET
hls-13440	64	2	eeg	eeg	PROPN
hls-13440	64	3	shows	show	VERB
hls-13440	64	4	intermittent	intermittent	ADJ
hls-13440	64	5	slow	slow	ADJ
hls-13440	64	6	activity	activity	NOUN
hls-13440	64	7	reflecting	reflect	VERB
hls-13440	64	8	cerebral	cerebral	ADJ
hls-13440	64	9	dysfunction	dysfunction	NOUN
hls-13440	64	10	.	.	PUNCT
hls-13440	65	1	sandifer	sandifer	VERB
hls-13440	65	2	phenomenon	phenomenon	NOUN
hls-13440	65	3	secondary	secondary	ADJ
hls-13440	65	4	to	to	ADP
hls-13440	65	5	gerd	gerd	NOUN
hls-13440	65	6	was	be	AUX
hls-13440	65	7	suspected	suspect	VERB
hls-13440	65	8	;	;	PUNCT
hls-13440	65	9	however	however	ADV
hls-13440	65	10	,	,	PUNCT
hls-13440	65	11	no	no	DET
hls-13440	65	12	fluoroscopic	fluoroscopic	NOUN
hls-13440	65	13	findings	finding	NOUN
hls-13440	65	14	of	of	ADP
hls-13440	65	15	gerd	gerd	NOUN
hls-13440	65	16	were	be	AUX
hls-13440	65	17	detected	detect	VERB
hls-13440	65	18	on	on	ADP
hls-13440	65	19	upper	upper	ADJ
hls-13440	65	20	gi	gi	NOUN
hls-13440	65	21	study	study	NOUN
hls-13440	65	22	,	,	PUNCT
hls-13440	65	23	and	and	CCONJ
hls-13440	65	24	the	the	DET
hls-13440	65	25	patient	patient	NOUN
hls-13440	65	26	failed	fail	VERB
hls-13440	65	27	to	to	PART
hls-13440	65	28	improve	improve	VERB
hls-13440	65	29	on	on	ADP
hls-13440	65	30	a	a	DET
hls-13440	65	31	one	one	NUM
hls-13440	65	32	-	-	PUNCT
hls-13440	65	33	month	month	NOUN
hls-13440	65	34	trial	trial	NOUN
hls-13440	65	35	of	of	ADP
hls-13440	65	36	omeprazole	omeprazole	NOUN
hls-13440	65	37	.	.	PUNCT
hls-13440	66	1	upper	upper	ADJ
hls-13440	66	2	gastrointestinal	gastrointestinal	ADJ
hls-13440	66	3	endoscopy	endoscopy	NOUN
hls-13440	66	4	was	be	AUX
hls-13440	66	5	then	then	ADV
hls-13440	66	6	performed	perform	VERB
hls-13440	66	7	and	and	CCONJ
hls-13440	66	8	revealed	reveal	VERB
hls-13440	66	9	normal	normal	ADJ
hls-13440	66	10	esophageal	esophageal	ADJ
hls-13440	66	11	mucosa	mucosa	NOUN
hls-13440	66	12	with	with	ADP
hls-13440	66	13	a	a	DET
hls-13440	66	14	corkscrew	corkscrew	ADJ
hls-13440	66	15	appearance	appearance	NOUN
hls-13440	66	16	suggestive	suggestive	ADJ
hls-13440	66	17	of	of	ADP
hls-13440	66	18	diffuse	diffuse	ADJ
hls-13440	66	19	esophageal	esophageal	ADJ
hls-13440	66	20	spasm	spasm	NOUN
hls-13440	66	21	.	.	PUNCT
hls-13440	67	1	manometry	manometry	PROPN
hls-13440	67	2	studies	study	NOUN
hls-13440	67	3	were	be	AUX
hls-13440	67	4	not	not	PART
hls-13440	67	5	available	available	ADJ
hls-13440	67	6	to	to	PART
hls-13440	67	7	confirm	confirm	VERB
hls-13440	67	8	the	the	DET
hls-13440	67	9	diagnosis	diagnosis	NOUN
hls-13440	67	10	.	.	PUNCT
hls-13440	68	1	the	the	DET
hls-13440	68	2	patient	patient	NOUN
hls-13440	68	3	continues	continue	VERB
hls-13440	68	4	to	to	PART
hls-13440	68	5	be	be	AUX
hls-13440	68	6	fed	feed	VERB
hls-13440	68	7	by	by	ADP
hls-13440	68	8	nasogastric	nasogastric	ADJ
hls-13440	68	9	tube	tube	NOUN
hls-13440	68	10	.	.	PUNCT
hls-13440	69	1	discussion	discussion	NOUN
hls-13440	69	2	hereditary	hereditary	ADJ
hls-13440	69	3	spastic	spastic	ADJ
hls-13440	69	4	paraplegia	paraplegia	NOUN
hls-13440	69	5	(	(	PUNCT
hls-13440	69	6	hsp	hsp	X
hls-13440	69	7	)	)	PUNCT
hls-13440	69	8	is	be	AUX
hls-13440	69	9	a	a	DET
hls-13440	69	10	collection	collection	NOUN
hls-13440	69	11	of	of	ADP
hls-13440	69	12	diseases	disease	NOUN
hls-13440	69	13	that	that	PRON
hls-13440	69	14	are	be	AUX
hls-13440	69	15	mostly	mostly	ADV
hls-13440	69	16	characterized	characterize	VERB
hls-13440	69	17	by	by	ADP
hls-13440	69	18	spasticity	spasticity	NOUN
hls-13440	69	19	and	and	CCONJ
hls-13440	69	20	paralysis	paralysis	NOUN
hls-13440	69	21	in	in	ADP
hls-13440	69	22	the	the	DET
hls-13440	69	23	lower	low	ADJ
hls-13440	69	24	extremities.5	extremities.5	NOUN
hls-13440	69	25	today	today	NOUN
hls-13440	69	26	,	,	PUNCT
hls-13440	69	27	there	there	PRON
hls-13440	69	28	are	be	VERB
hls-13440	69	29	more	more	ADJ
hls-13440	69	30	than	than	ADP
hls-13440	69	31	80	80	NUM
hls-13440	69	32	distinct	distinct	ADJ
hls-13440	69	33	forms	form	NOUN
hls-13440	69	34	of	of	ADP
hls-13440	69	35	hsp	hsp	NOUN
hls-13440	69	36	,	,	PUNCT
hls-13440	69	37	including	include	VERB
hls-13440	69	38	a	a	DET
hls-13440	69	39	broad	broad	ADJ
hls-13440	69	40	spectrum	spectrum	NOUN
hls-13440	69	41	of	of	ADP
hls-13440	69	42	molecular	molecular	ADJ
hls-13440	69	43	and	and	CCONJ
hls-13440	69	44	metabolic	metabolic	NOUN
hls-13440	69	45	aetiologies	aetiology	NOUN
hls-13440	69	46	,	,	PUNCT
hls-13440	69	47	that	that	PRON
hls-13440	69	48	can	can	AUX
hls-13440	69	49	be	be	AUX
hls-13440	69	50	inherited	inherit	VERB
hls-13440	69	51	in	in	ADP
hls-13440	69	52	an	an	DET
hls-13440	69	53	autosomal	autosomal	ADJ
hls-13440	69	54	dominant	dominant	ADJ
hls-13440	69	55	,	,	PUNCT
hls-13440	69	56	recessive	recessive	ADJ
hls-13440	69	57	,	,	PUNCT
hls-13440	69	58	or	or	CCONJ
hls-13440	69	59	x	x	X
hls-13440	69	60	-	-	VERB
hls-13440	69	61	linked	link	VERB
hls-13440	69	62	fashion.6	fashion.6	VERB
hls-13440	69	63	in	in	ADP
hls-13440	69	64	populations	population	NOUN
hls-13440	69	65	where	where	SCONJ
hls-13440	69	66	there	there	PRON
hls-13440	69	67	is	be	VERB
hls-13440	69	68	parental	parental	ADJ
hls-13440	69	69	consanguinity	consanguinity	NOUN
hls-13440	69	70	and/or	and/or	CCONJ
hls-13440	69	71	a	a	DET
hls-13440	69	72	common	common	ADJ
hls-13440	69	73	set	set	NOUN
hls-13440	69	74	of	of	ADP
hls-13440	69	75	founder	founder	NOUN
hls-13440	69	76	mutations	mutation	NOUN
hls-13440	69	77	,	,	PUNCT
hls-13440	69	78	autosomally	autosomally	ADV
hls-13440	69	79	recessively	recessively	ADV
hls-13440	69	80	inherited	inherit	VERB
hls-13440	69	81	illnesses	illness	NOUN
hls-13440	69	82	are	be	AUX
hls-13440	69	83	a	a	DET
hls-13440	69	84	significant	significant	ADJ
hls-13440	69	85	source	source	NOUN
hls-13440	69	86	of	of	ADP
hls-13440	69	87	both	both	DET
hls-13440	69	88	death	death	NOUN
hls-13440	69	89	and	and	CCONJ
hls-13440	69	90	morbidity.7	morbidity.7	PROPN
hls-13440	69	91	although	although	SCONJ
hls-13440	69	92	the	the	DET
hls-13440	69	93	consanguinity	consanguinity	NOUN
hls-13440	69	94	rates	rate	NOUN
hls-13440	69	95	in	in	ADP
hls-13440	69	96	western	western	ADJ
hls-13440	69	97	and	and	CCONJ
hls-13440	69	98	european	european	ADJ
hls-13440	69	99	countries	country	NOUN
hls-13440	69	100	are	be	AUX
hls-13440	69	101	less	less	ADJ
hls-13440	69	102	than	than	ADP
hls-13440	69	103	0.5	0.5	NUM
hls-13440	69	104	%	%	NOUN
hls-13440	69	105	,	,	PUNCT
hls-13440	69	106	this	this	DET
hls-13440	69	107	rate	rate	NOUN
hls-13440	69	108	is	be	AUX
hls-13440	69	109	much	much	ADV
hls-13440	69	110	higher	high	ADJ
hls-13440	69	111	in	in	ADP
hls-13440	69	112	arab	arab	ADJ
hls-13440	69	113	countries	country	NOUN
hls-13440	69	114	,	,	PUNCT
hls-13440	69	115	reaching	reach	VERB
hls-13440	69	116	20	20	NUM
hls-13440	69	117	-	-	SYM
hls-13440	69	118	50	50	NUM
hls-13440	69	119	%	%	NOUN
hls-13440	69	120	of	of	ADP
hls-13440	69	121	marriages	marriage	NOUN
hls-13440	69	122	in	in	ADP
hls-13440	69	123	saudi	saudi	ADJ
hls-13440	69	124	arabia.8	arabia.8	PROPN
hls-13440	69	125	both	both	CCONJ
hls-13440	69	126	spastic	spastic	ADJ
hls-13440	69	127	paraplegia	paraplegia	ADJ
hls-13440	69	128	83	83	NUM
hls-13440	69	129	(	(	PUNCT
hls-13440	69	130	spg83	spg83	NOUN
hls-13440	69	131	)	)	PUNCT
hls-13440	69	132	and	and	CCONJ
hls-13440	69	133	a	a	DET
hls-13440	69	134	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	69	135	disease	disease	NOUN
hls-13440	69	136	with	with	ADP
hls-13440	69	137	progressive	progressive	ADJ
hls-13440	69	138	spasticity	spasticity	NOUN
hls-13440	69	139	and	and	CCONJ
hls-13440	69	140	brain	brain	NOUN
hls-13440	69	141	white	white	ADJ
hls-13440	69	142	matter	matter	NOUN
hls-13440	69	143	abnormalities	abnormality	NOUN
hls-13440	69	144	(	(	PUNCT
hls-13440	69	145	nedswma	nedswma	NOUN
hls-13440	69	146	)	)	PUNCT
hls-13440	69	147	are	be	AUX
hls-13440	69	148	the	the	DET
hls-13440	69	149	two	two	NUM
hls-13440	69	150	primary	primary	ADJ
hls-13440	69	151	phenotypes	phenotype	NOUN
hls-13440	69	152	that	that	PRON
hls-13440	69	153	clinically	clinically	ADV
hls-13440	69	154	describe	describe	VERB
hls-13440	69	155	the	the	DET
hls-13440	69	156	hpdl	hpdl	ADV
hls-13440	69	157	-	-	PUNCT
hls-13440	69	158	related	relate	VERB
hls-13440	69	159	neurodegenerative	neurodegenerative	ADJ
hls-13440	69	160	condition	condition	NOUN
hls-13440	69	161	.	.	PUNCT
hls-13440	70	1	spg83	spg83	PROPN
hls-13440	70	2	is	be	AUX
hls-13440	70	3	characterized	characterize	VERB
hls-13440	70	4	by	by	ADP
hls-13440	70	5	spastic	spastic	ADJ
hls-13440	70	6	paraplegia	paraplegia	NOUN
hls-13440	70	7	in	in	ADP
hls-13440	70	8	juveniles	juvenile	NOUN
hls-13440	70	9	,	,	PUNCT
hls-13440	70	10	whereas	whereas	SCONJ
hls-13440	70	11	nedswma	nedswma	ADJ
hls-13440	70	12	often	often	ADV
hls-13440	70	13	manifests	manifest	VERB
hls-13440	70	14	as	as	ADP
hls-13440	70	15	severe	severe	ADJ
hls-13440	70	16	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	70	17	delay	delay	NOUN
hls-13440	70	18	,	,	PUNCT
hls-13440	70	19	brain	brain	NOUN
hls-13440	70	20	atrophy	atrophy	NOUN
hls-13440	70	21	,	,	PUNCT
hls-13440	70	22	and	and	CCONJ
hls-13440	70	23	spasticity	spasticity	NOUN
hls-13440	70	24	in	in	ADP
hls-13440	70	25	toddlers.1	toddlers.1	NOUN
hls-13440	70	26	previous	previous	ADJ
hls-13440	70	27	studies	study	NOUN
hls-13440	70	28	have	have	AUX
hls-13440	70	29	shown	show	VERB
hls-13440	70	30	that	that	SCONJ
hls-13440	70	31	probands	proband	NOUN
hls-13440	70	32	with	with	ADP
hls-13440	70	33	hpdl	hpdl	ADJ
hls-13440	70	34	variations	variation	NOUN
hls-13440	70	35	and	and	CCONJ
hls-13440	70	36	early	early	ADJ
hls-13440	70	37	disease	disease	NOUN
hls-13440	70	38	start	start	VERB
hls-13440	70	39	had	have	VERB
hls-13440	70	40	either	either	CCONJ
hls-13440	70	41	a	a	DET
hls-13440	70	42	milder	mild	ADJ
hls-13440	70	43	clinical	clinical	ADJ
hls-13440	70	44	course	course	NOUN
hls-13440	70	45	with	with	ADP
hls-13440	70	46	mild	mild	ADJ
hls-13440	70	47	to	to	ADP
hls-13440	70	48	severe	severe	ADJ
hls-13440	70	49	developmental	developmental	ADJ
hls-13440	70	50	delay	delay	NOUN
hls-13440	70	51	and	and	CCONJ
hls-13440	70	52	spasticity	spasticity	NOUN
hls-13440	70	53	progression	progression	NOUN
hls-13440	70	54	,	,	PUNCT
hls-13440	70	55	or	or	CCONJ
hls-13440	70	56	a	a	DET
hls-13440	70	57	severe	severe	ADJ
hls-13440	70	58	newborn	newborn	ADJ
hls-13440	70	59	encephalopathy	encephalopathy	NOUN
hls-13440	70	60	with	with	ADP
hls-13440	70	61	little	little	ADJ
hls-13440	70	62	to	to	ADP
hls-13440	70	63	no	no	DET
hls-13440	70	64	psychomotor	psychomotor	NOUN
hls-13440	70	65	development	development	NOUN
hls-13440	70	66	.	.	PUNCT
hls-13440	71	1	adolescent	adolescent	ADJ
hls-13440	71	2	-	-	PUNCT
hls-13440	71	3	onset	onset	ADJ
hls-13440	71	4	illness	illness	NOUN
hls-13440	71	5	,	,	PUNCT
hls-13440	71	6	on	on	ADP
hls-13440	71	7	the	the	DET
hls-13440	71	8	other	other	ADJ
hls-13440	71	9	hand	hand	NOUN
hls-13440	71	10	,	,	PUNCT
hls-13440	71	11	has	have	AUX
hls-13440	71	12	not	not	PART
hls-13440	71	13	been	be	AUX
hls-13440	71	14	linked	link	VERB
hls-13440	71	15	to	to	ADP
hls-13440	71	16	developmental	developmental	ADJ
hls-13440	71	17	problems.4	problems.4	PROPN
hls-13440	71	18	the	the	DET
hls-13440	71	19	range	range	NOUN
hls-13440	71	20	of	of	ADP
hls-13440	71	21	neuroradiological	neuroradiological	ADJ
hls-13440	71	22	findings	finding	NOUN
hls-13440	71	23	linked	link	VERB
hls-13440	71	24	to	to	ADP
hls-13440	71	25	variations	variation	NOUN
hls-13440	71	26	in	in	ADP
hls-13440	71	27	hpdl	hpdl	NOUN
hls-13440	71	28	was	be	AUX
hls-13440	71	29	likewise	likewise	ADV
hls-13440	71	30	quite	quite	ADV
hls-13440	71	31	high	high	ADJ
hls-13440	71	32	.	.	PUNCT
hls-13440	72	1	they	they	PRON
hls-13440	72	2	varied	vary	VERB
hls-13440	72	3	from	from	ADP
hls-13440	72	4	no	no	DET
hls-13440	72	5	pathological	pathological	ADJ
hls-13440	72	6	findings	finding	NOUN
hls-13440	72	7	to	to	ADP
hls-13440	72	8	anomalies	anomaly	NOUN
hls-13440	72	9	in	in	ADP
hls-13440	72	10	the	the	DET
hls-13440	72	11	striatum	striatum	NOUN
hls-13440	72	12	and	and	CCONJ
hls-13440	72	13	white	white	ADJ
hls-13440	72	14	matter.9	matter.9	NOUN
hls-13440	72	15	our	our	PRON
hls-13440	72	16	case	case	NOUN
hls-13440	72	17	is	be	AUX
hls-13440	72	18	the	the	DET
hls-13440	72	19	second	second	ADJ
hls-13440	72	20	reported	report	VERB
hls-13440	72	21	hpdl	hpdl	ADJ
hls-13440	72	22	gene	gene	NOUN
hls-13440	72	23	mutation	mutation	NOUN
hls-13440	72	24	case	case	NOUN
hls-13440	72	25	in	in	ADP
hls-13440	72	26	saudi	saudi	PROPN
hls-13440	72	27	arabia	arabia	PROPN
hls-13440	72	28	.	.	PUNCT
hls-13440	73	1	the	the	DET
hls-13440	73	2	first	first	ADJ
hls-13440	73	3	case	case	NOUN
hls-13440	73	4	was	be	AUX
hls-13440	73	5	reported	report	VERB
hls-13440	73	6	by	by	ADP
hls-13440	73	7	wiessner	wiessner	PROPN
hls-13440	73	8	et	et	PROPN
hls-13440	73	9	al	al	PROPN
hls-13440	73	10	.	.	PROPN
hls-13440	74	1	in	in	ADP
hls-13440	74	2	2021.6	2021.6	NUM
hls-13440	74	3	the	the	DET
hls-13440	74	4	dysmorphic	dysmorphic	ADJ
hls-13440	74	5	features	feature	NOUN
hls-13440	74	6	reported	report	VERB
hls-13440	74	7	in	in	ADP
hls-13440	74	8	our	our	PRON
hls-13440	74	9	case	case	NOUN
hls-13440	74	10	share	share	VERB
hls-13440	74	11	certain	certain	ADJ
hls-13440	74	12	similarities	similarity	NOUN
hls-13440	74	13	with	with	ADP
hls-13440	74	14	other	other	ADJ
hls-13440	74	15	reported	report	VERB
hls-13440	74	16	cases.6	cases.6	PROPN
hls-13440	74	17	however	however	ADV
hls-13440	74	18	,	,	PUNCT
hls-13440	74	19	our	our	PRON
hls-13440	74	20	patient	patient	NOUN
hls-13440	74	21	showed	show	VERB
hls-13440	74	22	a	a	DET
hls-13440	74	23	set	set	NOUN
hls-13440	74	24	of	of	ADP
hls-13440	74	25	unique	unique	ADJ
hls-13440	74	26	dysmorphic	dysmorphic	ADJ
hls-13440	74	27	features	feature	NOUN
hls-13440	74	28	,	,	PUNCT
hls-13440	74	29	including	include	VERB
hls-13440	74	30	a	a	DET
hls-13440	74	31	depressed	depressed	ADJ
hls-13440	74	32	nasal	nasal	NOUN
hls-13440	74	33	bridge	bridge	PROPN
hls-13440	74	34	,	,	PUNCT
hls-13440	74	35	micrognathia	micrognathia	PROPN
hls-13440	74	36	,	,	PUNCT
hls-13440	74	37	clinodactyly	clinodactyly	ADV
hls-13440	74	38	,	,	PUNCT
hls-13440	74	39	and	and	CCONJ
hls-13440	74	40	rocker	rocker	NOUN
hls-13440	74	41	-	-	PUNCT
hls-13440	74	42	bottom	bottom	ADJ
hls-13440	74	43	feet	foot	NOUN
hls-13440	74	44	that	that	PRON
hls-13440	74	45	were	be	AUX
hls-13440	74	46	not	not	PART
hls-13440	74	47	previously	previously	ADV
hls-13440	74	48	reported	report	VERB
hls-13440	74	49	.	.	PUNCT
hls-13440	75	1	other	other	ADJ
hls-13440	75	2	reported	report	VERB
hls-13440	75	3	dysmorphic	dysmorphic	ADJ
hls-13440	75	4	features	feature	NOUN
hls-13440	75	5	,	,	PUNCT
hls-13440	75	6	such	such	ADJ
hls-13440	75	7	as	as	ADP
hls-13440	75	8	high	high	ADJ
hls-13440	75	9	-	-	PUNCT
hls-13440	75	10	arched	arch	VERB
hls-13440	75	11	palates	palate	NOUN
hls-13440	75	12	,	,	PUNCT
hls-13440	75	13	hypertelorism	hypertelorism	NOUN
hls-13440	75	14	and	and	CCONJ
hls-13440	75	15	long	long	ADJ
hls-13440	75	16	philtrum	philtrum	NOUN
hls-13440	75	17	were	be	AUX
hls-13440	75	18	not	not	PART
hls-13440	75	19	detected	detect	VERB
hls-13440	75	20	in	in	ADP
hls-13440	75	21	our	our	PRON
hls-13440	75	22	case.6	case.6	NOUN
hls-13440	75	23	the	the	DET
hls-13440	75	24	respiratory	respiratory	ADJ
hls-13440	75	25	failure	failure	NOUN
hls-13440	75	26	in	in	ADP
hls-13440	75	27	this	this	DET
hls-13440	75	28	case	case	NOUN
hls-13440	75	29	was	be	AUX
hls-13440	75	30	attributed	attribute	VERB
hls-13440	75	31	to	to	ADP
hls-13440	75	32	peripheral	peripheral	ADJ
hls-13440	75	33	apnea	apnea	NOUN
hls-13440	75	34	caused	cause	VERB
hls-13440	75	35	by	by	ADP
hls-13440	75	36	laryngomalacia	laryngomalacia	NOUN
hls-13440	75	37	.	.	PUNCT
hls-13440	76	1	in	in	ADP
hls-13440	76	2	contrast	contrast	NOUN
hls-13440	76	3	,	,	PUNCT
hls-13440	76	4	the	the	DET
hls-13440	76	5	respiratory	respiratory	ADJ
hls-13440	76	6	failure	failure	NOUN
hls-13440	76	7	in	in	ADP
hls-13440	76	8	the	the	DET
hls-13440	76	9	other	other	ADJ
hls-13440	76	10	reported	report	VERB
hls-13440	76	11	cases	case	NOUN
hls-13440	76	12	was	be	AUX
hls-13440	76	13	due	due	ADJ
hls-13440	76	14	to	to	ADP
hls-13440	76	15	central	central	ADJ
hls-13440	76	16	apnea.6	apnea.6	PROPN
hls-13440	76	17	moreover	moreover	ADV
hls-13440	76	18	,	,	PUNCT
hls-13440	76	19	the	the	DET
hls-13440	76	20	highly	highly	ADV
hls-13440	76	21	suspected	suspect	VERB
hls-13440	76	22	diagnosis	diagnosis	NOUN
hls-13440	76	23	of	of	ADP
hls-13440	76	24	diffuse	diffuse	ADJ
hls-13440	76	25	esophageal	esophageal	ADJ
hls-13440	76	26	spasm	spasm	NOUN
hls-13440	76	27	is	be	AUX
hls-13440	76	28	also	also	ADV
hls-13440	76	29	a	a	DET
hls-13440	76	30	novel	novel	ADJ
hls-13440	76	31	clinical	clinical	ADJ
hls-13440	76	32	finding	finding	NOUN
hls-13440	76	33	,	,	PUNCT
hls-13440	76	34	since	since	SCONJ
hls-13440	76	35	it	it	PRON
hls-13440	76	36	was	be	AUX
hls-13440	76	37	not	not	PART
hls-13440	76	38	reported	report	VERB
hls-13440	76	39	previously	previously	ADV
hls-13440	76	40	in	in	ADP
hls-13440	76	41	similar	similar	ADJ
hls-13440	76	42	patients	patient	NOUN
hls-13440	76	43	.	.	PUNCT
hls-13440	77	1	although	although	SCONJ
hls-13440	77	2	we	we	PRON
hls-13440	77	3	acknowledge	acknowledge	VERB
hls-13440	77	4	that	that	DET
hls-13440	77	5	confirmation	confirmation	NOUN
hls-13440	77	6	of	of	ADP
hls-13440	77	7	the	the	DET
hls-13440	77	8	diagnosis	diagnosis	NOUN
hls-13440	77	9	with	with	ADP
hls-13440	77	10	manometry	manometry	NOUN
hls-13440	77	11	studies	study	NOUN
hls-13440	77	12	is	be	AUX
hls-13440	77	13	needed	need	VERB
hls-13440	77	14	.	.	PUNCT
hls-13440	78	1	conclusions	conclusion	NOUN
hls-13440	78	2	hpdl	hpdl	PROPN
hls-13440	78	3	gene	gene	NOUN
hls-13440	78	4	mutation	mutation	NOUN
hls-13440	78	5	is	be	AUX
hls-13440	78	6	a	a	DET
hls-13440	78	7	rare	rare	ADJ
hls-13440	78	8	white	white	ADJ
hls-13440	78	9	matter	matter	NOUN
hls-13440	78	10	disease	disease	NOUN
hls-13440	78	11	that	that	PRON
hls-13440	78	12	typically	typically	ADV
hls-13440	78	13	presents	present	VERB
hls-13440	78	14	as	as	ADP
hls-13440	78	15	spastic	spastic	ADJ
hls-13440	78	16	quadriplegia	quadriplegia	NOUN
hls-13440	78	17	with	with	ADP
hls-13440	78	18	central	central	ADJ
hls-13440	78	19	hypotonia	hypotonia	NOUN
hls-13440	78	20	.	.	PUNCT
hls-13440	79	1	our	our	PRON
hls-13440	79	2	patient	patient	NOUN
hls-13440	79	3	exhibited	exhibit	VERB
hls-13440	79	4	novel	novel	ADJ
hls-13440	79	5	clinical	clinical	ADJ
hls-13440	79	6	findings	finding	NOUN
hls-13440	79	7	,	,	PUNCT
hls-13440	79	8	including	include	VERB
hls-13440	79	9	diffuse	diffuse	ADJ
hls-13440	79	10	esophageal	esophageal	ADJ
hls-13440	79	11	spasm	spasm	NOUN
hls-13440	79	12	and	and	CCONJ
hls-13440	79	13	laryngomalacia	laryngomalacia	NOUN
hls-13440	79	14	.	.	PUNCT
hls-13440	80	1	additionally	additionally	ADV
hls-13440	80	2	,	,	PUNCT
hls-13440	80	3	unusual	unusual	ADJ
hls-13440	80	4	dysmorphic	dysmorphic	ADJ
hls-13440	80	5	features	feature	NOUN
hls-13440	80	6	were	be	AUX
hls-13440	80	7	observed	observe	VERB
hls-13440	80	8	,	,	PUNCT
hls-13440	80	9	such	such	ADJ
hls-13440	80	10	as	as	ADP
hls-13440	80	11	micrognathia	micrognathia	NOUN
hls-13440	80	12	,	,	PUNCT
hls-13440	80	13	clinodactyly	clinodactyly	ADV
hls-13440	80	14	,	,	PUNCT
hls-13440	80	15	a	a	DET
hls-13440	80	16	depressed	depressed	ADJ
hls-13440	80	17	nasal	nasal	NOUN
hls-13440	80	18	bridge	bridge	NOUN
hls-13440	80	19	,	,	PUNCT
hls-13440	80	20	and	and	CCONJ
hls-13440	80	21	rocker	rocker	NOUN
hls-13440	80	22	-	-	PUNCT
hls-13440	80	23	bottom	bottom	ADJ
hls-13440	80	24	feet	foot	NOUN
hls-13440	80	25	.	.	PUNCT
hls-13440	81	1	references	reference	NOUN
hls-13440	81	2	1	1	NUM
hls-13440	81	3	.	.	PUNCT
hls-13440	82	1	wang	wang	PROPN
hls-13440	82	2	y	y	PROPN
hls-13440	82	3	,	,	PUNCT
hls-13440	82	4	zheng	zheng	PROPN
hls-13440	82	5	x	x	PROPN
hls-13440	82	6	,	,	PUNCT
hls-13440	82	7	feng	feng	PROPN
hls-13440	82	8	c	c	AUX
hls-13440	82	9	,	,	PUNCT
hls-13440	82	10	et	et	PROPN
hls-13440	82	11	al	al	PROPN
hls-13440	82	12	.	.	PUNCT
hls-13440	83	1	hpdl	hpdl	PROPN
hls-13440	83	2	mutations	mutation	NOUN
hls-13440	83	3	identified	identify	VERB
hls-13440	83	4	by	by	ADP
hls-13440	83	5	exome	exome	NOUN
hls-13440	83	6	sequencing	sequencing	NOUN
hls-13440	83	7	are	be	AUX
hls-13440	83	8	associated	associate	VERB
hls-13440	83	9	with	with	ADP
hls-13440	83	10	infant	infant	NOUN
hls-13440	83	11	neurodevelopmental	neurodevelopmental	ADJ
hls-13440	83	12	disorders	disorder	NOUN
hls-13440	83	13	.	.	PUNCT
hls-13440	84	1	mol	mol	ADP
hls-13440	84	2	genet	genet	PROPN
hls-13440	84	3	genomic	genomic	NOUN
hls-13440	84	4	med	me	VERB
hls-13440	84	5	2022;10:2025	2022;10:2025	PROPN
hls-13440	84	6	.	.	PROPN
hls-13440	85	1	2	2	NUM
hls-13440	85	2	.	.	X
hls-13440	85	3	sartorelli	sartorelli	PROPN
hls-13440	85	4	j	j	PROPN
hls-13440	85	5	,	,	PUNCT
hls-13440	85	6	longo	longo	PROPN
hls-13440	85	7	d	d	PROPN
hls-13440	85	8	,	,	PUNCT
hls-13440	85	9	travaglini	travaglini	ADJ
hls-13440	85	10	l	l	NOUN
hls-13440	85	11	,	,	PUNCT
hls-13440	85	12	et	et	PROPN
hls-13440	85	13	al	al	PROPN
hls-13440	85	14	.	.	PUNCT
hls-13440	85	15	acute	acute	PROPN
hls-13440	85	16	ophthalmoplegia	ophthalmoplegia	NOUN
hls-13440	85	17	with	with	ADP
hls-13440	85	18	wernicke	wernicke	PROPN
hls-13440	85	19	-	-	PUNCT
hls-13440	85	20	like	like	ADJ
hls-13440	85	21	mri	mri	NOUN
hls-13440	85	22	pattern	pattern	NOUN
hls-13440	85	23	in	in	ADP
hls-13440	85	24	a	a	DET
hls-13440	85	25	patient	patient	NOUN
hls-13440	85	26	with	with	ADP
hls-13440	85	27	hpdlrelated	hpdlrelate	VERB
hls-13440	85	28	disorder	disorder	NOUN
hls-13440	85	29	.	.	PUNCT
hls-13440	86	1	mov	mov	PROPN
hls-13440	86	2	disord	disord	PROPN
hls-13440	86	3	clin	clin	PROPN
hls-13440	86	4	pract	pract	PROPN
hls-13440	86	5	2024;11:1160	2024;11:1160	PROPN
hls-13440	86	6	-	-	SYM
hls-13440	86	7	2	2	NUM
hls-13440	86	8	.	.	NOUN
hls-13440	86	9	3	3	NUM
hls-13440	86	10	.	.	X
hls-13440	86	11	husain	husain	PROPN
hls-13440	86	12	ra	ra	PROPN
hls-13440	86	13	,	,	PUNCT
hls-13440	86	14	grimmel	grimmel	PROPN
hls-13440	86	15	m	m	PROPN
hls-13440	86	16	,	,	PUNCT
hls-13440	86	17	wagner	wagner	PROPN
hls-13440	86	18	m	m	PROPN
hls-13440	86	19	,	,	PUNCT
hls-13440	86	20	et	et	PROPN
hls-13440	86	21	al	al	PROPN
hls-13440	86	22	.	.	PUNCT
hls-13440	87	1	bi	bi	ADJ
hls-13440	87	2	-	-	ADJ
hls-13440	87	3	allelic	allelic	ADJ
hls-13440	87	4	hpdl	hpdl	NOUN
hls-13440	87	5	variants	variant	NOUN
hls-13440	87	6	cause	cause	VERB
hls-13440	87	7	a	a	DET
hls-13440	87	8	neurodegenerative	neurodegenerative	ADJ
hls-13440	87	9	disease	disease	NOUN
hls-13440	87	10	ranging	range	VERB
hls-13440	87	11	from	from	ADP
hls-13440	87	12	neonatal	neonatal	ADJ
hls-13440	87	13	encephalopathy	encephalopathy	NOUN
hls-13440	87	14	to	to	ADP
hls-13440	87	15	adolescent	adolescent	ADJ
hls-13440	87	16	-	-	PUNCT
hls-13440	87	17	onset	onset	ADJ
hls-13440	87	18	spastic	spastic	ADJ
hls-13440	87	19	paraplegia	paraplegia	NOUN
hls-13440	87	20	.	.	PUNCT
hls-13440	87	21	am	be	AUX
hls-13440	87	22	j	j	PROPN
hls-13440	87	23	hum	hum	PROPN
hls-13440	87	24	genet	genet	PROPN
hls-13440	87	25	2020;107:364–73	2020;107:364–73	PROPN
hls-13440	87	26	.	.	PUNCT
hls-13440	88	1	4	4	X
hls-13440	88	2	.	.	X
hls-13440	88	3	micule	micule	PROPN
hls-13440	88	4	i	i	NOUN
hls-13440	88	5	,	,	PUNCT
hls-13440	88	6	lace	lace	NOUN
hls-13440	88	7	b	b	PROPN
hls-13440	88	8	,	,	PUNCT
hls-13440	88	9	wright	wright	PROPN
hls-13440	88	10	nt	nt	PROPN
hls-13440	88	11	,	,	PUNCT
hls-13440	88	12	et	et	PROPN
hls-13440	88	13	al	al	PROPN
hls-13440	88	14	.	.	PUNCT
hls-13440	88	15	case	case	NOUN
hls-13440	88	16	report	report	NOUN
hls-13440	88	17	:	:	PUNCT
hls-13440	88	18	two	two	NUM
hls-13440	88	19	families	family	NOUN
hls-13440	88	20	with	with	ADP
hls-13440	88	21	hpdl	hpdl	ADJ
hls-13440	88	22	related	relate	VERB
hls-13440	88	23	neurodegeneration	neurodegeneration	NOUN
hls-13440	88	24	.	.	PUNCT
hls-13440	89	1	front	front	ADJ
hls-13440	89	2	genet	genet	PROPN
hls-13440	89	3	case	case	NOUN
hls-13440	89	4	report	report	NOUN
hls-13440	90	1	[	[	X
hls-13440	90	2	healthcare	healthcare	NOUN
hls-13440	90	3	in	in	ADP
hls-13440	90	4	low	low	ADJ
hls-13440	90	5	-	-	PUNCT
hls-13440	90	6	resource	resource	NOUN
hls-13440	90	7	settings	setting	NOUN
hls-13440	90	8	2025;13:13440	2025;13:13440	NUM
hls-13440	90	9	]	]	X
hls-13440	91	1	[	[	X
hls-13440	91	2	page	page	NOUN
hls-13440	91	3	245	245	NUM
hls-13440	91	4	]	]	PUNCT
hls-13440	91	5	2022;13:780764	2022;13:780764	NUM
hls-13440	91	6	.	.	NOUN
hls-13440	91	7	5	5	NUM
hls-13440	91	8	.	.	NUM
hls-13440	91	9	yu	yu	PROPN
hls-13440	91	10	h	h	PROPN
hls-13440	91	11	,	,	PUNCT
hls-13440	91	12	wei	wei	PROPN
hls-13440	91	13	q	q	PROPN
hls-13440	91	14	,	,	PUNCT
hls-13440	91	15	luo	luo	PROPN
hls-13440	91	16	wj	wj	PROPN
hls-13440	91	17	,	,	PUNCT
hls-13440	91	18	wu	wu	PROPN
hls-13440	91	19	zy	zy	PROPN
hls-13440	91	20	.	.	PROPN
hls-13440	91	21	novel	novel	PROPN
hls-13440	91	22	bi	bi	ADJ
hls-13440	91	23	-	-	ADJ
hls-13440	91	24	allelic	allelic	ADJ
hls-13440	91	25	hpdl	hpdl	NOUN
hls-13440	91	26	variants	variant	NOUN
hls-13440	91	27	cause	cause	VERB
hls-13440	91	28	hereditary	hereditary	ADJ
hls-13440	91	29	spastic	spastic	ADJ
hls-13440	91	30	paraplegia	paraplegia	NOUN
hls-13440	91	31	in	in	ADP
hls-13440	91	32	a	a	DET
hls-13440	91	33	chinese	chinese	ADJ
hls-13440	91	34	patient	patient	NOUN
hls-13440	91	35	.	.	PUNCT
hls-13440	92	1	clin	clin	PROPN
hls-13440	92	2	genet	genet	PROPN
hls-13440	92	3	2021;100:777–8	2021;100:777–8	PROPN
hls-13440	92	4	.	.	PUNCT
hls-13440	93	1	6	6	NUM
hls-13440	93	2	.	.	X
hls-13440	93	3	wiessner	wiessner	PROPN
hls-13440	93	4	m	m	PROPN
hls-13440	93	5	,	,	PUNCT
hls-13440	93	6	maroofian	maroofian	ADJ
hls-13440	93	7	r	r	NOUN
hls-13440	93	8	,	,	PUNCT
hls-13440	93	9	ni	ni	PROPN
hls-13440	93	10	my	my	PROPN
hls-13440	93	11	,	,	PUNCT
hls-13440	93	12	et	et	PROPN
hls-13440	93	13	al	al	PROPN
hls-13440	93	14	.	.	PROPN
hls-13440	93	15	biallelic	biallelic	PROPN
hls-13440	93	16	variants	variant	NOUN
hls-13440	93	17	in	in	ADP
hls-13440	93	18	hpdl	hpdl	ADJ
hls-13440	93	19	cause	cause	VERB
hls-13440	93	20	pure	pure	ADJ
hls-13440	93	21	and	and	CCONJ
hls-13440	93	22	complicated	complicated	ADJ
hls-13440	93	23	hereditary	hereditary	ADJ
hls-13440	93	24	spastic	spastic	ADJ
hls-13440	93	25	paraplegia	paraplegia	NOUN
hls-13440	93	26	.	.	PUNCT
hls-13440	94	1	brain	brain	NOUN
hls-13440	94	2	2021;144:1422–34	2021;144:1422–34	NUM
hls-13440	94	3	.	.	PUNCT
hls-13440	95	1	7	7	X
hls-13440	95	2	.	.	X
hls-13440	95	3	morgan	morgan	PROPN
hls-13440	95	4	nv	nv	PROPN
hls-13440	95	5	,	,	PUNCT
hls-13440	95	6	yngvadottir	yngvadottir	PROPN
hls-13440	95	7	b	b	PROPN
hls-13440	95	8	,	,	PUNCT
hls-13440	95	9	o’driscoll	o’driscoll	NOUN
hls-13440	95	10	m	m	PROPN
hls-13440	95	11	,	,	PUNCT
hls-13440	95	12	et	et	PROPN
hls-13440	95	13	al	al	PROPN
hls-13440	95	14	.	.	PROPN
hls-13440	95	15	evidence	evidence	NOUN
hls-13440	95	16	that	that	SCONJ
hls-13440	95	17	autosomal	autosomal	ADJ
hls-13440	95	18	recessive	recessive	ADJ
hls-13440	95	19	spastic	spastic	ADJ
hls-13440	95	20	cerebral	cerebral	ADJ
hls-13440	95	21	palsy-1	palsy-1	NOUN
hls-13440	95	22	(	(	PUNCT
hls-13440	95	23	cpsq1	cpsq1	NOUN
hls-13440	95	24	)	)	PUNCT
hls-13440	95	25	is	be	AUX
hls-13440	95	26	caused	cause	VERB
hls-13440	95	27	by	by	ADP
hls-13440	95	28	a	a	DET
hls-13440	95	29	missense	missense	NOUN
hls-13440	95	30	variant	variant	NOUN
hls-13440	95	31	in	in	ADP
hls-13440	95	32	hpdl	hpdl	NOUN
hls-13440	95	33	.	.	PUNCT
hls-13440	96	1	brain	brain	PROPN
hls-13440	96	2	commun	commun	PROPN
hls-13440	96	3	2021;3:2	2021;3:2	NUM
hls-13440	96	4	.	.	PROPN
hls-13440	96	5	8	8	NUM
hls-13440	96	6	.	.	X
hls-13440	97	1	khayat	khayat	PROPN
hls-13440	97	2	am	be	AUX
hls-13440	97	3	,	,	PUNCT
hls-13440	97	4	alshareef	alshareef	VERB
hls-13440	97	5	bg	bg	PROPN
hls-13440	97	6	,	,	PUNCT
hls-13440	97	7	alharbi	alharbi	PROPN
hls-13440	97	8	sf	sf	PROPN
hls-13440	97	9	,	,	PUNCT
hls-13440	97	10	et	et	PROPN
hls-13440	97	11	al	al	PROPN
hls-13440	97	12	.	.	PROPN
hls-13440	98	1	consanguineous	consanguineous	ADJ
hls-13440	98	2	marriage	marriage	NOUN
hls-13440	98	3	and	and	CCONJ
hls-13440	98	4	its	its	PRON
hls-13440	98	5	association	association	NOUN
hls-13440	98	6	with	with	ADP
hls-13440	98	7	genetic	genetic	ADJ
hls-13440	98	8	disorders	disorder	NOUN
hls-13440	98	9	in	in	ADP
hls-13440	98	10	saudi	saudi	PROPN
hls-13440	98	11	arabia	arabia	PROPN
hls-13440	98	12	:	:	PUNCT
hls-13440	98	13	a	a	DET
hls-13440	98	14	review	review	NOUN
hls-13440	98	15	.	.	PUNCT
hls-13440	99	1	cureus	cureus	PROPN
hls-13440	99	2	2024;16	2024;16	NUM
hls-13440	99	3	:	:	PUNCT
hls-13440	99	4	e53888	e53888	NOUN
hls-13440	99	5	.	.	NOUN
hls-13440	99	6	9	9	NUM
hls-13440	99	7	.	.	X
hls-13440	99	8	numata	numata	NOUN
hls-13440	99	9	-	-	PUNCT
hls-13440	99	10	uematsu	uematsu	PROPN
hls-13440	99	11	y	y	PROPN
hls-13440	99	12	,	,	PUNCT
hls-13440	99	13	uematsu	uematsu	PROPN
hls-13440	99	14	m	m	PROPN
hls-13440	99	15	,	,	PUNCT
hls-13440	99	16	yamamoto	yamamoto	PROPN
hls-13440	99	17	t	t	PROPN
hls-13440	99	18	,	,	PUNCT
hls-13440	99	19	et	et	PROPN
hls-13440	99	20	al	al	PROPN
hls-13440	99	21	.	.	PROPN
hls-13440	99	22	leigh	leigh	PROPN
hls-13440	99	23	syndrome	syndrome	PROPN
hls-13440	99	24	-	-	PUNCT
hls-13440	99	25	like	like	ADJ
hls-13440	99	26	mri	mri	NOUN
hls-13440	99	27	changes	change	NOUN
hls-13440	99	28	in	in	ADP
hls-13440	99	29	a	a	DET
hls-13440	99	30	patient	patient	NOUN
hls-13440	99	31	with	with	ADP
hls-13440	99	32	biallelic	biallelic	ADJ
hls-13440	99	33	hpdl	hpdl	PROPN
hls-13440	99	34	variants	variant	NOUN
hls-13440	99	35	treated	treat	VERB
hls-13440	99	36	with	with	ADP
hls-13440	99	37	ketogenic	ketogenic	ADJ
hls-13440	99	38	diet	diet	NOUN
hls-13440	99	39	.	.	PUNCT
hls-13440	100	1	mol	mol	ADP
hls-13440	100	2	genet	genet	PROPN
hls-13440	100	3	metab	metab	PROPN
hls-13440	100	4	reports	report	NOUN
hls-13440	100	5	2021;29:100800	2021;29:100800	NUM
hls-13440	100	6	.	.	PUNCT
hls-13440	101	1	case	case	NOUN
hls-13440	101	2	report	report	NOUN
hls-13440	101	3	[	[	X
hls-13440	101	4	page	page	NOUN
hls-13440	101	5	246	246	NUM
hls-13440	101	6	]	]	PUNCT
hls-13440	102	1	[	[	X
hls-13440	102	2	healthcare	healthcare	NOUN
hls-13440	102	3	in	in	ADP
hls-13440	102	4	low	low	ADJ
hls-13440	102	5	-	-	PUNCT
hls-13440	102	6	resource	resource	NOUN
hls-13440	102	7	settings	setting	NOUN
hls-13440	102	8	2025;13:13440	2025;13:13440	NUM
hls-13440	102	9	]	]	PUNCT