Pitt-Hopkins-like syndrome: Difference between revisions

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Latest revision as of 08:07, 4 February 2025

Definition

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

NIH genetic and rare disease info

Pitt-Hopkins-like syndrome is a rare disease.


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