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

Orpha code: 603684OMIM code:

Definition

A rare genetic, multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.

Disease data
Classification

Malformation syndrome

Synonyms
PERCHING syndrome
PERCHING syndrome
ORPHA code
603684
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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