MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14

General Information (adopted from Orphanet):

Synonyms, Signs: MRT14
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614020
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
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
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nolan et al. (2008) described a large consanguineous Hutterite family, originally identified by Ober et al. (2001), with autosomal recessive nonsyndromic mental retardation. The family included 2 sisters, aged 32 and 47 years, and 2 brothers, aged 40 ...
Molecular genetics OMIM Caliskan et al. (2011) performed exome sequencing of the 4 affected individuals described by Nolan et al. (2008) as well as of another sib whose mild developmental delay had been attributed to birth trauma and infection and who ...