Pitt-Hopkins-like syndrome

MONDO:0016377

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.

Also known as: PTHSL

4 clinical trials for this condition and its sub-types.

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Sub-types

Cortical dysplasia-focal epilepsy syndrome (0) Pitt-Hopkins-like syndrome 2 (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Developmental defect during embryogenesis (7) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of development or morphogenesis (0)

Trials to join now! 2 Completed 2

Pitt-Hopkins-like syndrome

Sub-types

Broader categories

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