Oculocerebral hypopigmentation syndrome, Preus type
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Oculocerebral hypopigmentation syndrome, Preus type?
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