Intellectual developmental disorder, autosomal dominant 62

Preferred Label : Intellectual developmental disorder, autosomal dominant 62;

Symbol : MRD62;

CISMeF acronym : MRD62;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 62;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the discs large MAGUK scaffold protein 4 gene (DLG4, 602887.0001);

Prefixed ID : #618793;

Détails

Origin ID

618793;

UMLS CUI

C5394083;

Genes related to phenotype
- Discs large maguk scaffold protein 4 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Disproportionate tall stature [HPO term]
- Increased arm span [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Pes planus [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Striae distensae [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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