DISEASE: Macrocephaly, dysmorphic facies, and psychomotor retardation
Entry
H02298 Disease
Name
Macrocephaly, dysmorphic facies, and psychomotor retardation
Description
Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular membrane trafficking and ubiquitinization. It is also presumed to play a regulatory role in the mTOR pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2C Overgrowth syndromes
H02298 Macrocephaly, dysmorphic facies, and psychomotor retardation
Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A
Title
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
