MENTAL RETARDATION, FRA12A TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 1
OrphanetNr:
OMIM Id: 136630
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001249) Intellectual disability 1089 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Giraud et al. (1976) identified a chromosomal breakage point of chromosome 12q13 in a male patient with mental retardation and multiple congenital anomalies. An unaffected woman with the 12q13 fragile site had a baby with lethal arthrogryposis, but ...
Molecular genetics OMIM From an overview of FRA12A cytogenetic expression in 41 individuals from 16 published families, Winnepenninckx et al. (2007) concluded that a high level of cytogenetic expression of this rare folate-sensitive fragile site was significantly associated with mental retardation. ...