Intellectual deficit, X-linked, Schimke type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CHOREOATHETOSIS WITH MENTAL RETARDATION, X-LINKED |
| Number of Symptoms | 9 |
| OrphanetNr: | 85285 |
| OMIM Id: |
312840
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| ICD-10: |
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| UMLs: |
C1839320 |
| MeSH: |
C536630 |
| 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: |
Neonatal Infancy [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:0005484) | Postnatal microcephaly | 32 / 7739 | ||||
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(HPO:0000544) | External ophthalmoplegia | 40 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(OMIM) | Variable deafness | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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