Rare Disease Library

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

Acatalasemia

Catalase 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

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

Glutathione synthetase deficiency

Pyroglutamicaciduria

Glycogen storage disease due to glycogen synthase deficiency

GSD due to glycogen synthase deficiency · Glycogenosis due to glycogen synthase deficiency

GM3 synthase deficiency

ST3GAL5-CDG

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

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

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

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