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
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00713 MCPH-4 microcephaly, type 4, primary, autosomal recessive (MCPH-4) 604321 - - - CASC5, CEP152 - -
05151 MCPH-9 microcephaly, type 9, primary, autosomal recessive (MCPH-9) 614852 - - - CEP152 - -
00126 SCKL Seckel syndrome (SCKL) 210600 - - - ATR, CENPJ, CEP152, CEP63, NIN, RBBP8 - -
00274 SCKL-5 Seckel syndrome, type 5 (SCKL-5) 613823 - - - CEP152 - -
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