Kleefstra syndrome

Definition

A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.

Disease data

Classification

Malformation syndrome

ORPHA code

261494

OMIM code

610253

ICD10 code

Q87.8

ICD11 code

LD2F.1Y

*Soruce