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Pitt-Hopkins syndrome

rare

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

Identifiers
MONDO:0012589 OMIM:610954Orphanet:2896
Causal genes
TCF4
Part of
Pitt-Hopkins or Pitt-Hopkins-like syndromeSyndromic disease
Also known as
intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea · mental retardation, Syndromal, with intermittent hyperventilation · Pitt Hopkins syndrome · PTHS

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