Orphanet: Intellectual disability facial dysmorphism syndrome due to SETD5 haploinsufficiency
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Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Disease definition

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

ORPHA:404440

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.0
  • OMIM: 615761
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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