Details of Disease

General Information of Disease (ID: DISES5W5)

Disease Name Macrocephaly, dysmorphic facies, and psychomotor retardation
Synonyms macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR; macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR
Disease Hierarchy
DISYKSRF: Genetic disease
DISES5W5: Macrocephaly, dysmorphic facies, and psychomotor retardation
Disease Identifiers
MONDO ID
MONDO_0014863
UMLS CUI
C4310766
OMIM ID
617011
MedGen ID
934733

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
HERC1 OT73FVYZ Definitive Autosomal recessive [1]
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References

1 Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. Clin Genet. 2015 Oct;88(4):e1-3. doi: 10.1111/cge.12634. Epub 2015 Jul 27.