Pitt-Hopkins syndrome

MONDO:0012589

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

Also known as: Pitt-Hopkins syndrome, PTHS, Pitt Hopkins syndrome, encephalopathy, Severe epileptic, with autonomic dysfunction, intellectual disability, Syndromal, with intermittent hyperventilation, intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea, mental retardation, Syndromal, with intermittent hyperventilation

3 clinical trials for this condition and its sub-types, 3 tagged with Pitt-Hopkins syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7158) ↑ Pitt-Hopkins or Pitt-Hopkins-like syndrome (3)

Including sub-types (3) Tagged with Pitt-Hopkins syndrome (3)

Trials to join now! 2 Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Pitt-Hopkins syndrome

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth