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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare odontologic 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: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COG6 Q9Y2V7606977
No signs/symptoms info available.