Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of vision (HP:0000504)

Parent Node:
Visual impairment (HP:0000505)

..Starting node
..Cerebral visual impairment (HP:0100704)

Term ID:

100704

Name:

Cerebral visual impairment

Synonym:

Cortical blindness; Cortical visual impairment; Cortical/cerebral visual impairment; CVI

Definition:

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.

Comments:

Reference:

HP:0100704

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blindness (HP:0000618)

Moderately reduced visual acuity (HP:0030515)

obsolete Congenital visual impairment (HP:0007758)

Severely reduced visual acuity (HP:0001141)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100704	HP:0100704	Cerebral visual impairment	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0100704	HP:0100704	Cerebral visual impairment	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0100704	HP:0100704	Cerebral visual impairment	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0100704	HP:0100704	Cerebral visual impairment	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0100704	HP:0100704	Cerebral visual impairment	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0100704	HP:0100704	Cerebral visual impairment	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100704	HP:0100704	Cerebral visual impairment	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0100704	HP:0100704	Cerebral visual impairment	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0100704	HP:0100704	Cerebral visual impairment	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0100704	HP:0100704	Cerebral visual impairment	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0100704	HP:0100704	Cerebral visual impairment	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0100704	HP:0100704	Cerebral visual impairment	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0100704	HP:0100704	Cerebral visual impairment	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0100704	HP:0100704	Cerebral visual impairment	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0100704	HP:0100704	Cerebral visual impairment	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0100704	HP:0100704	Cerebral visual impairment	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0100704	HP:0100704	Cerebral visual impairment	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0100704	HP:0100704	Cerebral visual impairment	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0100704	HP:0100704	Cerebral visual impairment	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0100704	HP:0100704	Cerebral visual impairment	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0100704	HP:0100704	Cerebral visual impairment	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0100704	HP:0100704	Cerebral visual impairment	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0100704	HP:0100704	Cerebral visual impairment	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	HP:0040284 - Very rare	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0100704	HP:0100704	Cerebral visual impairment	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional	19
HP:0100704	HP:0100704	Cerebral visual impairment	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040284 - Very rare	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0100704	HP:0100704	Cerebral visual impairment	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0100704	HP:0100704	Cerebral visual impairment	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0100704	HP:0100704	Cerebral visual impairment	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0100704	HP:0100704	Cerebral visual impairment	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0100704	HP:0100704	Cerebral visual impairment	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0100704	HP:0100704	Cerebral visual impairment	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.	118
HP:0100704	HP:0100704	Cerebral visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0100704	HP:0100704	Cerebral visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0100704	HP:0100704	Cerebral visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0100704	HP:0100704	Cerebral visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0100704	HP:0100704	Cerebral visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0100704	HP:0100704	Cerebral visual impairment	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0100704	HP:0100704	Cerebral visual impairment	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0100704	HP:0100704	Cerebral visual impairment	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0100704	HP:0100704	Cerebral visual impairment	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0100704	HP:0100704	Cerebral visual impairment	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0100704	HP:0100704	Cerebral visual impairment	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0100704	HP:0100704	Cerebral visual impairment	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional	5
HP:0100704	HP:0100704	Cerebral visual impairment	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0100704	HP:0100704	Cerebral visual impairment	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	HP:0040283 - Occasional	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0100704	HP:0100704	Cerebral visual impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0100704	HP:0100704	Cerebral visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0100704	HP:0100704	Cerebral visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0100704	HP:0100704	Cerebral visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0100704	HP:0100704	Cerebral visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0100704	HP:0100704	Cerebral visual impairment	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	HP:0040284 - Very rare	61
HP:0100704	HP:0100704	Cerebral visual impairment	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0100704	HP:0100704	Cerebral visual impairment	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.	44
HP:0100704	HP:0100704	Cerebral visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0100704	HP:0100704	Cerebral visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0100704	HP:0100704	Cerebral visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0100704	HP:0100704	Cerebral visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0100704	HP:0100704	Cerebral visual impairment	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0100704	HP:0100704	Cerebral visual impairment	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	HP:0040283 - Occasional	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0100704	HP:0100704	Cerebral visual impairment	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent	108
HP:0100704	HP:0100704	Cerebral visual impairment	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	HP:0040284 - Very rare	108
HP:0100704	HP:0100704	Cerebral visual impairment	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0100704	HP:0100704	Cerebral visual impairment	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0100704	HP:0100704	Cerebral visual impairment	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0100704	HP:0100704	Cerebral visual impairment	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0100704	HP:0100704	Cerebral visual impairment	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0100704	HP:0100704	Cerebral visual impairment	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0100704	HP:0100704	Cerebral visual impairment	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional	276
HP:0100704	HP:0100704	Cerebral visual impairment	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.	93
HP:0100704	HP:0100704	Cerebral visual impairment	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0100704	HP:0100704	Cerebral visual impairment	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0100704	HP:0100704	Cerebral visual impairment	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0100704	HP:0100704	Cerebral visual impairment	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0100704	HP:0100704	Cerebral visual impairment	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0100704	HP:0100704	Cerebral visual impairment	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	HP:0040284 - Very rare
HP:0100704	HP:0100704	Cerebral visual impairment	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0100704	HP:0100704	Cerebral visual impairment	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0100704	HP:0100704	Cerebral visual impairment	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent	47
HP:0100704	HP:0100704	Cerebral visual impairment	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0100704	HP:0100704	Cerebral visual impairment	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0100704	HP:0100704	Cerebral visual impairment	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.	37
HP:0100704	HP:0100704	Cerebral visual impairment	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0100704	HP:0100704	Cerebral visual impairment	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.	14
HP:0100704	HP:0100704	Cerebral visual impairment	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.	54
HP:0100704	HP:0100704	Cerebral visual impairment	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0100704	HP:0100704	Cerebral visual impairment	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0100704	HP:0100704	Cerebral visual impairment	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100704	HP:0100704	Cerebral visual impairment	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0100704	HP:0100704	Cerebral visual impairment	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0100704	HP:0100704	Cerebral visual impairment	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0100704	HP:0100704	Cerebral visual impairment	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0100704	HP:0100704	Cerebral visual impairment	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional	45
HP:0100704	HP:0100704	Cerebral visual impairment	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100704	HP:0100704	Cerebral visual impairment	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0100704	HP:0100704	Cerebral visual impairment	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	13
HP:0100704	HP:0100704	Cerebral visual impairment	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	HP:0040284 - Very rare	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0100704	HP:0100704	Cerebral visual impairment	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0100704	HP:0100704	Cerebral visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0100704	HP:0100704	Cerebral visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0100704	HP:0100704	Cerebral visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0100704	HP:0100704	Cerebral visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0100704	HP:0100704	Cerebral visual impairment	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0100704	HP:0100704	Cerebral visual impairment	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0100704	HP:0100704	Cerebral visual impairment	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0100704	HP:0100704	Cerebral visual impairment	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0100704	HP:0100704	Cerebral visual impairment	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0100704	HP:0100704	Cerebral visual impairment	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0100704	HP:0100704	Cerebral visual impairment	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0100704	HP:0100704	Cerebral visual impairment	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0100704	HP:0100704	Cerebral visual impairment	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0100704	HP:0100704	Cerebral visual impairment	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0100704	HP:0100704	Cerebral visual impairment	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.	1053
HP:0100704	HP:0100704	Cerebral visual impairment	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0100704	HP:0100704	Cerebral visual impairment	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0100704	HP:0100704	Cerebral visual impairment	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0100704	HP:0100704	Cerebral visual impairment	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100704	HP:0100704	Cerebral visual impairment	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0100704	HP:0100704	Cerebral visual impairment	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0100704	HP:0100704	Cerebral visual impairment	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0100704	HP:0100704	Cerebral visual impairment	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0100704	HP:0100704	Cerebral visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional	28
HP:0100704	HP:0100704	Cerebral visual impairment	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0100704	HP:0100704	Cerebral visual impairment	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent	27
HP:0100704	HP:0100704	Cerebral visual impairment	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0100704	HP:0100704	Cerebral visual impairment	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0100704	HP:0100704	Cerebral visual impairment	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional	19
HP:0100704	HP:0100704	Cerebral visual impairment	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent	19
HP:0100704	HP:0100704	Cerebral visual impairment	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0100704	HP:0100704	Cerebral visual impairment	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0100704	HP:0100704	Cerebral visual impairment	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0100704	HP:0100704	Cerebral visual impairment	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0100704	HP:0100704	Cerebral visual impairment	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0100704	HP:0100704	Cerebral visual impairment	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0100704	HP:0100704	Cerebral visual impairment	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0100704	HP:0100704	Cerebral visual impairment	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0100704	HP:0100704	Cerebral visual impairment	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0100704	HP:0100704	Cerebral visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	HP:0040283 - Occasional	12
HP:0100704	HP:0100704	Cerebral visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0100704	HP:0100704	Cerebral visual impairment	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0100704	HP:0100704	Cerebral visual impairment	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0100704	HP:0100704	Cerebral visual impairment	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	HP:0040284 - Very rare
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	HP:0040284 - Very rare
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0100704	HP:0100704	Cerebral visual impairment	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0100704	HP:0100704	Cerebral visual impairment	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0100704	HP:0100704	Cerebral visual impairment	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0100704	HP:0100704	Cerebral visual impairment	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0100704	HP:0100704	Cerebral visual impairment	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0100704	HP:0100704	Cerebral visual impairment	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0100704	HP:0100704	Cerebral visual impairment	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0100704	HP:0100704	Cerebral visual impairment	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0100704	HP:0100704	Cerebral visual impairment	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent	1
HP:0100704	HP:0100704	Cerebral visual impairment	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0100704	HP:0100704	Cerebral visual impairment	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0100704	HP:0100704	Cerebral visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0100704	HP:0100704	Cerebral visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0100704	HP:0100704	Cerebral visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0100704	HP:0100704	Cerebral visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34

Genes (163) :ADARB1 ADNP AFF3 AHDC1 AMPD2 ARHGDIA ARPC4 ASNS ATN1 BRAF BRAT1 CACNA1B CACNA1D CACNA1E CC2D2A CCDC47 CDKL5 CDON CEP85L CERT1 CHD3 CHKA CHMP1A CLCN4 CLCN6 COG5 COPB2 COQ2 COX1 COX2 COX3 COX6B1 CPSF3 CYTB D2HGDH DIAPH1 DISP1 DLL1 DOCK7 DOHH DPM1 DTYMK EMC1 FBXW7 FCSK FDFT1 FGF12 FGF8 FGFR1 FOXH1 FOXRED1 GABRA2 GABRB1 GABRB2 GAS1 GLI2 GLYCTK GNB1 GRIK2 GRIN1 GRIN2D GRM7 H3-3A HECW2 HK1 KAT6A KIF1A KIF5A KMT2B LMNB1 MACF1 MAPK8IP3 MTHFS NADK2 NAGA NARS2 ND1 ND5 ND6 NEUROD2 NODAL NR2F1 P4HTM PARS2 PDSS2 PET100 PGAP1 PHGDH PIGA PIGP PIGQ PIGS PIGT PIGU PIGY PLCH1 POLG POLG2 POLR3GL PPP2R1A PPP3CA PRUNE1 PSMD12 PTCH1 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RALGAPA1 RERE RNF13 RRM2B SCN1A SCN3A SELENOI SEPSECS SHANK3 SHH SIX3 SLC25A1 SLC25A4 SLC35A2 SMC1A SNRPN SON SPATA5 SPATA5L1 SPTBN4 ST3GAL5 STAG2 STIL SUOX TANGO2 TBC1D20 TBCK TDGF1 TELO2 TGIF1 TIMM8A TMEM53 TRAF7 TRAPPC12 TRAPPC2L TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSEN15 TSEN2 TSEN34 TSEN54 TUBGCP2 TWNK VAMP2 VPS11 VPS51 YIF1B ZIC2

Diseases (148) :OMIM:618862 ORPHA:404448 OMIM:619297 ORPHA:412069 OMIM:615809 OMIM:615244 OMIM:620141 OMIM:615574 OMIM:618494 OMIM:115150 OMIM:614498 OMIM:618497 OMIM:615474 ORPHA:369929 OMIM:618285 OMIM:612285 OMIM:618268 OMIM:300672 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:618873 ORPHA:572013 OMIM:616351 OMIM:618205 OMIM:620023 OMIM:614961 ORPHA:485350 OMIM:300114 OMIM:619173 ORPHA:263487 OMIM:617800 ORPHA:255249 OMIM:540000 OMIM:619051 OMIM:619876 OMIM:600721 OMIM:616632 ORPHA:411986 OMIM:615859 OMIM:620066 OMIM:608799 ORPHA:79322 OMIM:619847 OMIM:616875 ORPHA:480898 OMIM:620012 OMIM:618324 OMIM:618156 OMIM:617166 OMIM:618241 OMIM:618557 OMIM:617153 OMIM:617829 ORPHA:941 ORPHA:488613 OMIM:616973 OMIM:619580 ORPHA:208447 OMIM:614254 OMIM:617162 OMIM:618922 OMIM:619720 OMIM:617268 OMIM:618547 OMIM:616268 ORPHA:457193 OMIM:614255 OMIM:617235 OMIM:619934 OMIM:619179 OMIM:618325 OMIM:618443 OMIM:618367 OMIM:616034 ORPHA:431361 ORPHA:79279 OMIM:609241 OMIM:616239 OMIM:618374 OMIM:615722 ORPHA:401777 OMIM:618493 OMIM:618437 OMIM:614652 OMIM:619055 OMIM:615802 ORPHA:79351 OMIM:300868 OMIM:301072 OMIM:617599 OMIM:618548 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:616809 ORPHA:254892 OMIM:203700 OMIM:610131 OMIM:619234 OMIM:616362 ORPHA:457284 OMIM:617711 ORPHA:544469 OMIM:617516 ORPHA:481152 ORPHA:2510 OMIM:614222 OMIM:618797 ORPHA:494344 OMIM:618379 ORPHA:544503 OMIM:607208 OMIM:617938 OMIM:618768 ORPHA:2524 OMIM:606232 OMIM:615182 ORPHA:356961 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:617519 OMIM:609056 OMIM:272300 ORPHA:480864 OMIM:616900 ORPHA:488642 OMIM:616954 ORPHA:52368 OMIM:304700 OMIM:619727 OMIM:618164 ORPHA:500144 OMIM:617669 OMIM:618331 OMIM:612389 OMIM:618737 OMIM:618760 OMIM:616683 ORPHA:466934 OMIM:618606 OMIM:619125

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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