Preferred Label : Mehmo syndrome;
Symbol : MEHMO;
CISMeF acronym : MEHMO; MRXSBRK; MRXS20; MRXS25;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mental retardation, X-linked, syndromic 25; MRXSBRK; MRXS20; MRXS25; Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly,
and obesity; Mental retardation, X-linked, syndromic, borck type; Mental retardation, X-linked, syndromic 20;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2, subunit 3 gene
(EIF2S3, 300161.0001);
Prefixed ID : #300148;
Origin ID : 300148;
UMLS CUI : C1846278;
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)