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Pitt-Hopkins-like syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Mondo Description 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 Term and Equivalent IDs
MONDO:0016377:  Pitt-Hopkins-like syndrome
GARD:0011967: 
Orphanet:221150: 
UMLS:CN239445: