Pitt-Hopkins syndrome
Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015653
monogenic epilepsy
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0980732
Pitt-Hopkins or Pitt-Hopkins-like syndrome
is_a
PTHS
related
Pitt Hopkins syndrome
related
Pitt-Hopkins syndrome
exact
intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
related
mental retardation, Syndromal, with intermittent hyperventilation
related