Also known as: EPKHE, SAM syndrome, Sam syndrome, congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE, severe dermatitis, multiple allergies, and metabolic wasting syndrome
Also known as: EOSRD, SECORD, STGD1, Stargardt disease 1, Stargardt disease type 1, Stgd, early-onset severe retinal dystrophy, fundus flavimaculatus, macular Degeneration, juvenile, macular dystrophy with flecks, type 1, retinal dystrophy, early-onset severe
Also known as: AR-CMT2, Ouvrier type, SEOAN due to MFN2 deficiency, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
Also known as: ILLD, PAP, Reunion island type, hereditary pulmonary alveolar proteinosis with hepatic involvement, infantile liver failure syndrome 2, infantile liver failure syndrome 2, formerly, interstitial lung and liver disease, pulmonary alveolar proteinosis, Reunion Island, pulmonary alveolar proteinosis, Reunion island type
Also known as: MRT55, intellectual disability, autosomal recessive 55, intellectual disability, autosomal recessive type 55, mental retardation, autosomal recessive 55, mental retardation, autosomal recessive type 55, neurodevelopmental disorder with microcephaly and gray sclerae, neurodevelopmental disorder with microcephaly and grey sclerae
Also known as: severe factor VIII deficiency, severe haemophilia type A, severe hemophilia type A
Also known as: severe factor IX deficiency, severe haemophilia type B, severe hemophilia type B
Also known as: IHPMR, hypotonia, infantile, with psychomotor retardation
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