Orphanet: Pitt Hopkins syndrome
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Pitt-Hopkins syndrome

Disease definition

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

ORPHA:2896

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 610954
  • UMLS: C1970431
  • MeSH: C537403
  • GARD: 4372
  • MedDRA: -

Detailed information

Professionals

Additional information

Further information on this disease

Specialised Social Services

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