Primary cutis verticis gyrata
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
12
|
OrphanetNr:
|
671
|
OMIM Id:
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|
ICD-10:
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Q82.8
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UMLs:
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C0263417
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MeSH:
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|
MedDRA:
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Snomed:
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51603000
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Prevalence, inheritance and age of onset:
Prevalence:
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No data available.
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Inheritance:
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|
Age of onset:
|
All ages
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
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Unclassified dermis disorder
-Rare skin disease
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|
|
|
|
|
|
|
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1
|
(HPO:0000252)
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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
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |