Rare Disease Library

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

HPS10 · Hermansky-Pudlak syndrome type 10

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 deficiency

Severe early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease