MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A MRT2 MRT2A |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
607417
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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:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(OMIM) | No autistic features | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Mildly delayed developmental milestones | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Higgins et al. (2000) used a private genealogic database to reconstruct the relationships among 32 individuals from 5 nuclear families in a single pedigree in which 10 members had nonsyndromic mental retardation. Standard IQ ranged from 50 to ... |
| Molecular genetics OMIM | In the family with nonsyndromic mental retardation described by Higgins et al. (2000), Higgins et al. (2004) identified a homozygous mutation in the CRBN gene (609262.0001) that segregated with the phenotype. |