MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1

General Information (adopted from Orphanet):

Synonyms, Signs: MRT1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 249500
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:0000486) Strabismus 576 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(OMIM) Hyperactive tendon reflexes 1 / 7739
5
(OMIM) Positive Babinski reflexes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mental retardation is a leading feature of many mendelian syndromes. In addition, studies in mental institutions such as those of Priest et al. (1961) and of Wright et al. (1959) show that mental retardation of unclassified type occurs ...
Molecular genetics OMIM In a family of 8 children born to first-cousin Algerian parents, Molinari et al. (2002) identified 3 girls and 1 boy who were moderately to severely mentally retarded with IQs below 50. All children reportedly had normal milestones ...