Intellectual developmental disorder, autosomal dominant 51

Preferred Label : Intellectual developmental disorder, autosomal dominant 51;

Symbol : MRD51;

CISMeF acronym : MRD51;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 51;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific methyltransferase 5B gene KMT5B, 610881.0001;

Prefixed ID : #617788;

Details

Origin ID

617788;

UMLS CUI

C4540474;

Currated CISMeF NLP mapping
- autosomal dominant mental retardation 51 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 51 [DO Concept]
Genes related to phenotype
- Lysine methyltransferase 5b [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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