Details of Disease

General Information of Disease (ID: DIS0PBFD)

Disease Name Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Synonyms NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS0PBFD: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Disease Identifiers
MONDO ID
MONDO_0032661
UMLS CUI
C4749014
OMIM ID
618292
MedGen ID
1648291

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
DOCK3 OTF3YS2W Strong Autosomal recessive [1]
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References

1 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. Clin Genet. 2017 Oct;92(4):430-433. doi: 10.1111/cge.12995. Epub 2017 Mar 30.