General Information of Disease (ID: DISA6RCK)

Disease Name Intellectual developmental disorder, autosomal recessive 73
Synonyms MRT73
Disease Hierarchy
DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
DISA6RCK: Intellectual developmental disorder, autosomal recessive 73
Disease Identifiers
MONDO ID
MONDO_0030533
UMLS CUI
C5676902
OMIM ID
619717
MedGen ID
1802013

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
NAA20 OTJB0VA6 Strong Autosomal recessive [1]
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References

1 Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly. Genet Med. 2021 Nov;23(11):2213-2218. doi: 10.1038/s41436-021-01264-0. Epub 2021 Jul 6.