Pitt-Hopkins-like syndrome
Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015653
monogenic epilepsy
excluded_subClassOf
MONDO:0980732
Pitt-Hopkins or Pitt-Hopkins-like syndrome
is_a
PTHSL
exact