Details of Disease

General Information of Disease (ID: DISHCZQ5)

Disease Name Neurodevelopmental disorder with microcephaly and dysmorphic facies
Synonyms NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES; NEDMIDF; nabais sa-de vries syndrome, type 1
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISHCZQ5: Neurodevelopmental disorder with microcephaly and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0032942
UMLS CUI
C5394218
OMIM ID
618828
MedGen ID
1719418

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMBRD2 OTD9C4IF Moderate Autosomal dominant [1]
SPOP OTP0107S Strong Autosomal dominant [2]
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References

1 De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20.
2 Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer. Prostate. 2014 Jun;74(9):983-90. doi: 10.1002/pros.22818. Epub 2014 May 6.