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

ORPHA code
2896
OMIM code
610954
ICD10 code
Q87.0
ICD11 code
LD2F.1Y

No additional description.

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