Pitt-Hopkins syndrome
MONDO:0012589Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Also known as: Pitt-Hopkins syndrome, PTHS, Pitt Hopkins syndrome, encephalopathy, Severe epileptic, with autonomic dysfunction, intellectual disability, Syndromal, with intermittent hyperventilation, intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea, mental retardation, Syndromal, with intermittent hyperventilation
7 clinical trials for this condition and its sub-types.
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Disease
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Hereditary disease
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Syndromic disease
(24)
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 body system or component
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Disease by developmental or physiological process
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