Details of Disease

General Information of Disease (ID: DISL9R2R)

Disease Name Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Synonyms NEDMEBA; neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISL9R2R: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Disease Identifiers
MONDO ID
MONDO_0060640
UMLS CUI
C4693390
OMIM ID
617862
MedGen ID
1637443

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
TRAPPC6B OTDSWXHT Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet. 2018 Jan;55(1):48-54. doi: 10.1136/jmedgenet-2017-104627. Epub 2017 Jun 16.