Cortical visual impairment

Symptom Information:

Symptom ID: HPO:0100704
Synonyms:
Cortical blindness [HPO:0100704]
Cortical blindness [OMIM:Cortical blindness]
Cortical visual impairment [OMIM:Cortical visual impairment]
Cortical blindness (1 patient) [OMIM:Cortical blindness (1 patient)]
Cortical blindness (in one patient) [OMIM:Cortical blindness (in one patient)]
Cortical visual impairment (in some patients) [OMIM:Cortical visual impairment (in some patients)]
Visual impairment, cortical (in severe cases) [OMIM:Visual impairment, cortical (in severe cases)]
Blindness cortical [MedDRA:10005177]
Quality:
Cross references:
OMIM: "Cortical blindness" [OMIM:Cortical blindness]
OMIM: "Cortical visual impairment" [OMIM:Cortical visual impairment]
OMIM: "Cortical blindness (1 patient)" [OMIM:Cortical blindness (1 patient)]
OMIM: "Cortical blindness (in one patient)" [OMIM:Cortical blindness (in one patient)]
OMIM: "Cortical visual impairment (in some patients)" [OMIM:Cortical visual impairment (in some patients)]
OMIM: "Visual impairment, cortical (in severe cases)" [OMIM:Visual impairment, cortical (in severe cases)]
Is a (Direct Parents):
HPO         Visual impairment
MedDRA Neurologic visual problems NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Abnormality of vision(HPO:0000504)
                Visual impairment(HPO:0000505)
                   Cortical visual impairment(HPO:0100704)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders of the eye(MedDRA:10029301)
       Neurologic visual problems NEC(MedDRA:10029292)
          Cortical visual impairment(HPO:0100704)
Database Frequency: 28 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Adenylosuccinate lyase deficiency (Orphanet:46)
Aldosterone-producing adenoma with seizures and neurological abnormalities (Orphanet:369929)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Amish infantile epilepsy syndrome (Orphanet:171714)
COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
DPM1-CDG (Orphanet:79322)
Dravet syndrome (Orphanet:33069)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Monosomy 22q13 (Orphanet:48652)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Ornithine transcarbamylase deficiency (Orphanet:664)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Schilder disease (Orphanet:59298)
Senior-Loken syndrome 8 (OMIM:616307)