Rare Disease Library

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated glycerol kinase deficiency

Hyperglycerolemia

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia