Primary cutis verticis gyrata

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 671
OMIM Id:
ICD-10: Q82.8
UMLs: C0263417
MeSH:
MedDRA:
Snomed: 51603000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
2
(HPO:0001965) Abnormality of the scalp Very frequent [Orphanet] 10 / 7739
3
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
4
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
5
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
6
(HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
7
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
8
(HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
9
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
10
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
11
(HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
12
(HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: