Pitt-Hopkins-like syndrome
MONDO:0016377Mondo
Findings
No curated finding names Pitt-Hopkins-like syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016377), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: Pitt-Hopkins-like syndrome
- Also called
- PTHSL