Details of Disease

General Information of Disease (ID: DISOVKBA)

Disease Name Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
Disease Hierarchy
DISYKSRF: Genetic disease
DISOVKBA: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
Disease Identifiers
MONDO ID
MONDO_0859198
UMLS CUI
C5561998
OMIM ID
619557
MedGen ID
1794208

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
ZNF407 OT0SAIE9 Strong Autosomal recessive [1]
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References

1 Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism. Biochim Biophys Acta. 2013 Mar;1832(3):431-8. doi: 10.1016/j.bbadis.2012.11.009. Epub 2012 Nov 26.