CUTIS VERTICIS GYRATA AND MENTAL RETARDATION
General Information (adopted from Orphanet):
Synonyms, Signs: |
CVG/MR |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
219300
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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:0010541) | Cutis gyrata of scalp | 6 / 7739 | ||||
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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 |
McDowall (1893) first described the association of cutis verticis gyrata (CVG) and mental retardation. Akesson (1964) found 47 cases in a survey of persons with mental retardation who were institutionalized in Sweden. Also see Rosenthal-Kloepfer syndrome (102100). ... |