MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34

General Information (adopted from Orphanet):

Synonyms, Signs: MRT34
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614499
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 Puffenberger et al. (2012) reported 5 Mennonite patients with nonsyndromic mental retardation. Affected individuals had mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech was rudimentary, but articulate; autism was not present.
Molecular genetics OMIM By homozygosity mapping followed by exome sequencing of 5 Mennonite patients with nonsyndromic mental retardation, Puffenberger et al. (2012) identified a homozygous mutation in the CRADD gene (G128R; 603454.0001). Seven heterozygous carriers of this mutation were found among ...