Rare Disease Library

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

NAD(P)HX dehydratase deficiency

CARKD deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia