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Oculocerebral dysplasia

Synonym(s) Behrens-Baumann-Vogel syndrome
Microphthalmia-optic nerve aplasia syndrome
Prevalence -
Inheritance -
Age of onset -
  • Q11.2
  • C2931582
MeSH -
MedDRA -


Oculo-cerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive.

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