Global developmental delay with or without impaired intellectual development

Preferred Label : Global developmental delay with or without impaired intellectual development;

Symbol : GDDI;

CISMeF acronym : GDDI;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cut-like homeobox 1 gene (CUX1, 116896.0001);

Prefixed ID : #618330;

Détails

Origin ID

618330;

UMLS CUI

C5193032;

Genes related to phenotype
- Cut-like homeobox 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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