Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | 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 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
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 | 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 | | |