Preferred Label : Kleefstra syndrome 1;
Symbol : KLEFS1;
CISMeF acronym : KLEFS1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : 9q- syndrome; 9q subtelomeric deletion syndrome; Chromosome 9q34.3 deletion syndrome;
Description : Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable
mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et
al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion
syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic
seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower
lip, carp mouth with macroglossia, and heart defects.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the euchromatic histone methyltransferase-1 gene (EHMT1, 607001.0001);
Prefixed ID : #610253;
Origin ID : 610253;
UMLS CUI : C0795833;
Automatic exact mappings (from CISMeF team)
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT