Rare Disease Library

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Argininemia

Arginase 1 deficiency · Arginase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatase deficiency

Congenital estrogen deficiency

Aspartylglucosaminuria

Aspartylglucosaminidase deficiency

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

Fumaric aciduria

Fumarase deficiency

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glutathione synthetase deficiency

Pyroglutamicaciduria

Glutathione synthetase deficiency with 5-oxoprolinuria

GM3 synthase deficiency

ST3GAL5-CDG

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Late-onset familial hypoaldosteronism

Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism

Lipoic acid synthetase deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Neurometabolic disorder due to serine deficiency

Serine deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

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

Xanthinuria type I

XDH deficiency · XO deficiency