Phenotype #0000000295

Malaysian Node of the Human Variome Project Database

LOVD v.3.0 Build 29 [ Current LOVD status ]
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Individual ID	00000771
Associated disease	CHILD
Phenotype details	She had kyphoscoliosis with restricted chest expansion, fix flexion deformity of the left hand with leftAKA stump. Thick, erythematous, and verrucous scaly plaques along the Blaschko lines involving the left upper limb, left inguinal region and posterior thigh. Radiographic examination of the chest showed scoliosis with asymmetrical rib cage, and a relatively enlarged cardiac size, dysplastic left acetabulum and resorbed femoral head
Inheritance	-
Owner name	Nur Aisyah Athirah
Database submission license
Created by	Nur Aisyah Athirah