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Definition

An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating.

Acronym

PERCHING

Synonyms

CISS3
Crisponi/Cold-induced sweating syndrome 3

 
Disclaimer

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