Details of Disease

General Information of Disease (ID: DISD9JZD)

• Disease Name: Pitt-Hopkins-like syndrome
• Synonyms: PTHSL
• Definition: 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.
• Disease Hierarchy:
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISD9JZD: Pitt-Hopkins-like syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0016377
  UMLS CUI: C4751168
  MedGen ID: 1648432