MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6

General Information (adopted from Orphanet):

Synonyms, Signs: MRT6
Number of Symptoms 7
OrphanetNr:
OMIM Id: 611092
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:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
2
(HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
3
(HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(HPO:0001336) Myoclonus rare [HPO:skoehler] 115 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Motazacker et al. (2007) reviewed phenotypic features of the family described by Najmabadi et al. (2007). Mental retardation in affected members ranged from mild to severe. They noted that the patients did not have neurologic problems, congenital malformations, ...
Molecular genetics OMIM Motazacker et al. (2007) stated that the MRT6 locus contains 25 annotated genes, of which 8 were considered to be plausible candidate genes for mental retardation and were selected for mutation screening. In DNA from patients from the ...