Details of Disease

General Information of Disease (ID: DISWP6DO)

Disease Name Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Synonyms NEDDISH; NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISWP6DO: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Disease Identifiers
MONDO ID
MONDO_0033562
UMLS CUI
C5436585
OMIM ID
619005
MedGen ID
1776912

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
MADD OTUFYVGG Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.