Intellectual developmental disorder, autosomal recessive 51

Preferred Label : Intellectual developmental disorder, autosomal recessive 51;

Symbol : MRT51;

CISMeF acronym : MRT51;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the histamine N-methyltransferase gene (HNMT, 605238.0002);

Prefixed ID : #616739;

Details

Origin ID

616739;

UMLS CUI

C4225220;

Genes related to phenotype
- Histamine n-methyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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