MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 MRT22 MRT7 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
611093
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Garshasbi et al. (2008) reported a highly consanguineous Iranian kindred in which 7 individuals had nonsyndromic moderate to severe mental retardation. Brain MRI of 2 patients showed no abnormalities. Molinari et al. (2008) reported 2 sibs, ... |
| Molecular genetics OMIM |
In affected members of a large consanguineous Iranian family with nonsyndromic mental retardation, Garshasbi et al. (2008) found a homozygous 120- to 150-kb deletion on chromosome 8p22 including the first exon of the TUSC3 gene. All unaffected parents ... |