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Intellectual disability-cupped ears syndrome

ORPHA:656135· ICD-10 Q87.0

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.

Inheritance
Autosomal dominant