Pitt-Hopkins syndrome

Orpha code: 2896OMIM code: 610954

Definition

A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.

Disease data
Classification

Malformation syndrome

Synonyms
PTHS
Pitt-Hopkins syndrome
ORPHA code
2896
OMIM code
610954
ICD10 code
Q87.0
ICD11 code
LD2F.1Y

No additional description.

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