Genes associated with “cortical visual impairment”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
12 genesglutamate ionotropic receptor NMDA type subunit 2B
developmental and epileptic encephalopathy, 62
Warburg micro syndrome 3
glutamate ionotropic receptor NMDA type subunit 1
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Consider
34 genesintellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
developmental and epileptic encephalopathy, 69
developmental and epileptic encephalopathy, 6A
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
deafness dystonia syndrome
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
neurodevelopmental disorder with speech impairment and with or without seizures
actin beta
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
potassium voltage-gated channel subfamily Q member 3
periventricular nodular heterotopia 7
lissencephaly 9 with complex brainstem malformation
mitochondrial DNA depletion syndrome 4a
developmental and epileptic encephalopathy 110
GM3 synthase deficiency
neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
developmental and epileptic encephalopathy, 23
lissencephaly 10
Phelan-McDermid syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 2
developmental and epileptic encephalopathy, 2
glycosylphosphatidylinositol biosynthesis defect 18
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
TELO2-related intellectual disability-neurodevelopmental disorder
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
coenzyme Q10 deficiency, primary, 3
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
neurodevelopmental disorder with hypotonia, seizures, and absent language
ZTTK syndrome
Possible
102 genes — click to expand
squalene synthase deficiency
myoclonus, intractable, neonatal
Stankiewicz-Isidor syndrome
mitochondrial complex I deficiency, nuclear type 19
developmental and epileptic encephalopathy, 47
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
intellectual disability, autosomal dominant 9
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
hypomyelinating leukodystrophy 12
Snijders Blok-Campeau syndrome
intellectual disability, autosomal recessive 42
hyperphosphatasia with intellectual disability syndrome 6
microcephaly 26, primary, autosomal dominant
cardiac, facial, and digital anomalies with developmental delay
developmental and epileptic encephalopathy 91
progressive encephalopathy with leukodystrophy due to DECR deficiency
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
congenital disorder of glycosylation, type IAA
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
congenital disorder of glycosylation type 1E
pontocerebellar hypoplasia type 9
multiple congenital anomalies-hypotonia-seizures syndrome 3
D,L-2-hydroxyglutaric aciduria
developmental and epileptic encephalopathy 92
combined oxidative phosphorylation defect type 24
intellectual disability, X-linked 49
developmental and epileptic encephalopathy, 73
neurodevelopmental disorder with hearing loss and spasticity
alpha-N-acetylgalactosaminidase deficiency type 1
trichohepatoneurodevelopmental syndrome
developmental and epileptic encephalopathy, 45
microcephaly 19, primary, autosomal recessive
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
developmental and epileptic encephalopathy, 55
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
multiple mitochondrial dysfunctions syndrome 9b
Jaberi-Elahi syndrome
pontocerebellar hypoplasia type 8
congenital disorder of glycosylation with defective fucosylation 2
developmental and epileptic encephalopathy, 75
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
nephrotic syndrome, type 8
ornithine transcarbamylase
sodium voltage-gated channel alpha subunit 8
cerebellar atrophy, visual impairment, and psychomotor retardation;
discs large MAGUK scaffold protein 4
Kaya-Barakat-Masson syndrome
mitochondrial complex IV deficiency, nuclear type 7
spinocerebellar ataxia type 29
developmental and epileptic encephalopathy, 77
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
isolated sulfite oxidase deficiency
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Houge-Janssens syndrome 2
developmental and epileptic encephalopathy, 72
neonatal-onset encephalopathy with rigidity and seizures
D-2-hydroxyglutaric aciduria 1
cortical dysplasia, complex, with other brain malformations 12
intellectual disability, autosomal dominant 34
cardiofaciocutaneous syndrome 1
Joubert syndrome 14
Joubert syndrome 9
mitochondrial complex I deficiency, nuclear type 11
intellectual developmental disorder, autosomal dominant 68
mitochondrial complex IV deficiency, nuclear type 12
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
glycosylphosphatidylinositol biosynthesis defect 21
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
synaptosome associated protein 25
CLN5 lysosomal BMP synthase
purinergic receptor P2Y12
cytochrome b5 reductase 3
glial fibrillary acidic protein
neurofilament light chain
proprotein convertase subtilisin/kexin type 9
peroxisome proliferator activated receptor gamma
sulfatase modifying factor 1
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.