Kleefstra syndrome 2

Preferred Label : Kleefstra syndrome 2;

Symbol : KLEFS2;

CISMeF acronym : KLEFS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific methyltransferase 2C gene (KMT2C, 606833.0001);

Prefixed ID : #617768;

Details

Origin ID

617768;

UMLS CUI

C4540395;

Automatic exact mappings (from CISMeF team)
- KMT2C wt Allele [NCIt concept]
- Kleefstra syndrome 2 [DO Concept]
DO Cross reference
- Kleefstra syndrome 2 [DO Concept]
Genes related to phenotype
- Lysine-specific methyltransferase 2c [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant germline de novo mutation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Delayed speech and language development [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Plagiocephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Thick eyebrow [HPO term]
ORDO concept(s)
- Kleefstra syndrome due to a point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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