CUTIS VERTICIS GYRATA AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs: CVG/MR
Number of Symptoms 3
OrphanetNr:
OMIM Id: 219300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010541) Cutis gyrata of scalp 6 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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). ...