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
04590 COXPD24 oxidative phosphorylation deficiency, combined, type 24 (COXPD-24) 616239 AR - - NARS2 - -
06142 DFNB94 ?Deafness, autosomal recessive 94 618434 AR - - NARS2 - -
05611 NDD neurodevelopmental disorder (NDD) - - 4453 4273 ACBD6, ADARB1, AP1G1, ARFGEF1, ATG12, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CHKA, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, 94 more - -
07040 NEDMILEG neurodevelopmental disorder with microcephaly, impaired language, epilepsy, gait abnormalities, autosomal dominant 619092 AD - - NARS - -
07039 NEDMILG neurodevelopmental disorder with microcephaly, impaired language, gait abnormalities, autosomal recessive 619091 AR - - NARS - -
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