Phenotype #0000000285

Individual ID 00000754
Associated disease GS
Phenotype details fair-skinned with silvery hair and had hepatosplenomegaly on abdominal palpation. He is presented with HLH and partial albinism. Micrograph of hair follicle demonstrating characteristic abnormal clumping of melanin pigment along the shaft.
Inheritance -
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah

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