Rare Disease Library

Reticular dysgenesis

AK2 deficiency · De Vaal disease

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

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

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

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

Trehalase deficiency

Isolated trehalose intolerance

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

Xanthinuria type I

XDH deficiency · XO deficiency