Phenotype #0000017267

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00019466
Associated disease	HPS
Phenotype details	see paper; ..., oculocutaneous albinism, frequent prolonged nosebleeds, prolonged bleeding after dental extractions and surgery, no pulmonary or gastrointestinal symptoms, platelet count normal
Diagnosis/Initial	Hermansky-Pudlak syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HPS6
Age/Examination	39y (39 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	William (Bill) Oetting
Database submission license
Created by	Johan den Dunnen
Date created	2011-10-18 16:53:22 +02:00 (CEST)
Date last edited	2022-01-25 17:58:31 +01:00 (CET)

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