RS759315662 NBAS
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What This Variant Does
"CLNSIG=5
Associated Conditions
Infantile liver failure syndrome 2
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
NBAS-related disorder
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Retinal disorder
Infantile liver failure syndrome 2
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
NBAS-related disorder
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Retinal disorder
Other Variants in NBAS