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Oculocerebral hypopigmentation syndrome, Preus type
Disease definition
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.
ORPHA:2720
Classification level: DisorderA summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)
Detailed information
General public
- Article for general public
- Español (2018) - ALBA


Additional information
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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