Rare Disease Library

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Severe MSMD due to complete IFNG deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency · Severe MSMD due to complete IRF1 deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

STAT1 deficiency · Predisposition to severe viral infection due to STAT1 deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

Xanthinuria type I

XDH deficiency · XO deficiency

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome