Intellectual developmental disorder, X-linked 100

Preferred Label : Intellectual developmental disorder, X-linked 100;

Symbol : XLID100;

CISMeF acronym : MRX100;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX100; Mental retardation, X-linked 100;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the kinesin family member 4A gene (KIF4A, 300521.0001);

Prefixed ID : #300923;

Détails

Origin ID

300923;

UMLS CUI

C3890167;

Automatic exact mappings (from CISMeF team)
- kinesin family member 4A [HGNC gene]
- non-syndromic X-linked intellectual disability 100 [DO Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 100 [DO Concept]
Genes related to phenotype
- Kinesin family member 4a [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Delayed speech and language development [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Intellectual disability [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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