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Home/Rare disease/Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

ORPHA:664511

Inheritance: Autosomal recessive

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Not medical advice. Consult a healthcare professional. This information is general reference based on public data and does not replace consultation with a doctor or pharmacist.

Source:

Orphanet — Orphanet Rare Disease Nomenclature (CC BY 4.0) [Source data]

Source: Orphanet (orpha.net) — used under CC BY 4.0.

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