Preferred Label : Encephalopathy, neonatal severe, due to mecp2 mutations;
Type : Phenotype, molecular basis known;
Description : The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental
disorder that almost always occurs in females. Although it was first thought that
MECP2 mutations causing Rett syndrome were lethal in males, later reports identified
a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome.
Since then, additional reports have confirmed a severe phenotype in males with RTT-associated
MECP2 mutations (Moog et al., 2003; Villard, 2007). Males with non-RTT mutations in
the MECP2 gene can demonstrate a wide variety of phenotypes: see also nonspecific
X-linked mental retardation, X-linked mental retardation with spasticity (300055),
and X-linked mental retardation due to increased dosage of the MECP2 gene (300260).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, 300005.0003);
Prefixed ID : #300673;
Origin ID : 300673;
UMLS CUI : C1968556;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)