Details of Disease

General Information of Disease (ID: DISBAPYX)

Disease Name Microcephaly, growth deficiency, seizures, and brain malformations
Synonyms MIGSB; MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS
Disease Hierarchy
DISYKSRF: Genetic disease
DISBAPYX: Microcephaly, growth deficiency, seizures, and brain malformations
Disease Identifiers
MONDO ID
MONDO_0032690
UMLS CUI
C5193042
OMIM ID
618346
MedGen ID
1676229

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
WDR4 OTTRUZUH Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol. 2015 Sep 28;16:210. doi: 10.1186/s13059-015-0779-x.