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Optic atrophy-intellectual disability syndrome

Disease definition

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

ORPHA:401777

Classification level: Disorder
  • Synonym(s):
    • BBSOAS
    • Bosch-Boonstra-Schaaf optic atrophy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: H47.2
  • OMIM: 615722
  • UMLS: C3810363
  • MeSH: -
  • GARD: -
  • MedDRA: 10083269

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.