Intellectual deficit, X-linked, Stocco Dos Santos type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MENTAL RETARDATION, X-LINKED, STOCCO DOS SANTOS TYPE SDSX |
| Number of Symptoms | 3 |
| OrphanetNr: | 85288 |
| OMIM Id: |
300434
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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: | 4 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
X-linked syndromic intellectual deficit
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002187) | Intellectual disability, profound | 44 / 7739 | ||||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Stocco dos Santos et al. (1991) described a Brazilian family in which 4 males had severe mental retardation, bilateral congenital hip luxation, and short stature. Five uncles of these males may have been affected. Three of the affected ... |
| Molecular genetics OMIM | Hagens et al. (2006) identified a missense mutation in the KIAA1202 gene (300579.0001) that segregated with the X-linked mental retardation syndrome in the family described by Stocco dos Santos et al. (1991, 2003). |