Intellectual developmental disorder, fra12a type

Preferred Label : Intellectual developmental disorder, fra12a type;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, fra12a type;

Description : FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CGG)n in the B homolog of the disco-interacting protein 2 homolog B gene (DIP2B, 611379.0001);

Prefixed ID : #136630;

Details

Origin ID

136630;

UMLS CUI

C1969893;

Currated CISMeF NLP mapping
- mental retardation, Fra12a type [MeSH concept]
- mental retardation, Fra12a type [MeSH Supplementary Concept]
Genes related to phenotype
- Disco-interacting protein 2 homolog b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperkeratosis [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, Fra12a type [MeSH Supplementary Concept]
- mental retardation, Fra12a type [MeSH concept]

Keyword's position in hierarchy(ies) :

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