Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom
ORPHA:363523· ICD-10 Q82.8· Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal recessive
- Erkrankungsalter
- Infancy, Neonatal