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Pure hair and nail ectodermal dysplasia
4 OMIM references -
2 associated genes
6 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked non-syndromic intellectual deficit
Cabezas syndrome
Goldmann-Favre syndrome
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Spinocerebellar ataxia type 12
Synonym(s):
- HNED
- Hair-nail ectodermal dysplasia
- PHNED
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HOXC13 P31276142976
KRT85 P78386602767
No signs/symptoms info available.