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Oculocerebral hypopigmentation syndrome, Cross type

Disease definition

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

ORPHA:2719

  • Synonym(s):
    • Cross syndrome
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E70.3
  • OMIM: 257800
  • UMLS: C0268496  C2936910
  • MeSH: -
  • GARD: 105
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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