MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12

General Information (adopted from Orphanet):

Synonyms, Signs: MRT12
Number of Symptoms 2
OrphanetNr:
OMIM Id: 611090
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 Najmabadi et al. (2007) and Hu et al. (2011) reported 2 unrelated consanguineous Iranian families with nonsyndromic mild to moderate mental retardation.
Molecular genetics OMIM In affected members of 2 unrelated consanguineous Iranian families with autosomal recessive nonsyndromic mental retardation, including the one reported by Najmabadi et al. (2007), Hu et al. (2011) used linkage analysis, chromosome sorting, and next-generation sequencing and identified ...