Pitt-Hopkins-like syndrome

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Name:
Pitt-Hopkins-like syndrome
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.
ORPHAcode:
221150
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
01 Feb 2020 - 12:07