D2I2.
genetic

Pitt–Hopkins syndrome

Pitt–Hopkins (PTHS) is a rare disorder characterized by developmental delay, moderate to severe intellectual disability, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Epilepsy often occurs in Pitt-Hopkins. It is part of the of Rett-like syndromes. Pitt-Hopkins syndrome is clinically similar to Angelman syndrome, Rett syndrome, Mowat–Wilson syndrome, and ATR-X syndrome.

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Plain-language summary adapted from Wikipedia. Not medical advice.