Details of Disease

General Information of Disease (ID: DISZ431L)

Disease Name Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Synonyms PAMDDFS; PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Disease Hierarchy
DISYKSRF: Genetic disease
DISZ431L: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Disease Identifiers
MONDO ID
MONDO_0032893
UMLS CUI
C5231486
OMIM ID
618737
MedGen ID
1684879

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
TUBGCP2 OTQMMVJB Strong Autosomal recessive [1]
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References

1 Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19.