Oculocerebral hypopigmentation syndrome, Preus type

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Oculocerebral hypopigmentation syndrome Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation growth retardation and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism cataract delayed neuropsychomotor development sensorineural hearing loss dolicocephaly high arched palate widely spaced teeth anemia and/or nystagmus.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Oculocerebral hypopigmentation syndrome, Preus type?

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