Details of Disease

General Information of Disease (ID: DISGE8Z3)

Disease Name Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Synonyms NEDCAFD
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISGE8Z3: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Disease Identifiers
MONDO ID
MONDO_0030999
UMLS CUI
C5543228
OMIM ID
619244
MedGen ID
1786662

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
TTC5 OTWW9ME0 Strong Autosomal recessive [1]
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References

1 Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.