All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03679 ICRD degeneration, cerebellar-retinal, infantile (ICRD) 614559 - 8 8 ACO2 - onset between ages 2m-6m truncal hypotonia, athetosis, seizures, ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration, profound psychomotor retardation only some achieving rolling, sitting, or recognition of family, brain MRI shows progressive cerebral and cerebellar degeneration
00139 ID intellectual disability (ID) - - 1518 1256 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 529 more - -
05684 neuropathy, optic neuropathy, optic - - 114 106 ACO2 - -
04293 OPA atrophy, optic (OPA) - - 642 595 ACO2, DNM1L, OPA1, OPA3, RTN4IP1, SSBP1, TMEM126A, YME1L1 - -
04344 OPA-9 atrophy, optic, type 9 (OPA-9) 616289 - 2 2 ACO2 - autosomal recessive
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