Disease #00142 (GS (Griscelli Syndrome), OMIM:607624)

Official abbreviation GS
Name Griscelli Syndrome
OMIM ID 607624
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene RAB27A
Associated tissues -
Disease features -
Remarks -


Individuals

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00000754 H Ariffin et al.(2014) M Malaysia Indian - - - GS 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. RAB27A RAB27A 1 1 Nur Aisyah Athirah
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