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 AR 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) - - 2334 2032 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
05684 neuropathy, optic neuropathy, optic - - 230 215 ACO2, DNM1L, MFN2, NR2F1, OPA1, RTN4IP1, SPG7, SSBP1 - -
04293 OPA atrophy, optic (OPA) - - 891 794 ACO2, DNM1L, OPA1, OPA3, RTN4IP1, SSBP1, TMEM126A, YME1L1 - -
04344 OPA9 atrophy, optic, type 9 (OPA-9) 616289 AR 2 2 ACO2 - autosomal recessive
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