Details of Disease

General Information of Disease (ID: DIS1BXKX)

Disease Name Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Synonyms NEDMCR; neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS1BXKX: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Disease Identifiers
MONDO ID
MONDO_0060664
UMLS CUI
C4693567
OMIM ID
617913
MedGen ID
1634867

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GEMIN4 OTX7402E Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome. Am J Med Genet A. 2022 Oct;188(10):2932-2940. doi: 10.1002/ajmg.a.62894. Epub 2022 Jul 21.