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KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome

ORPHA:603684· ICD-10 Q87.8· KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

Yaygınlık
<1 / 1 000 000
Kalıtım
Autosomal recessive
Başlangıç yaşı
Neonatal