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Definition

A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.

Acronym

PTHS

Synonyms

Encephalopathy severe epileptic with autonomic dysfunction
Mental retardation syndromal with intermittent hyperventilation
MeSH; D006985
MeSH; D008607

Keywords

Mental retardation

 
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