Cortical visual impairment
Symptom Information:
Symptom ID: | HPO:0100704 | ||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |