inherited metabolic disorder +

aceruloplasminemia
amino acid metabolic disorder +
aromatic L-amino acid decarboxylase deficiency
bilirubin metabolic disorder +
carbohydrate metabolic disorder +
cerebral amyloid angiopathy +
D-glyceric aciduria
dopamine beta-hydroxylase deficiency
familial hypocalciuric hypercalcemia +
glycerol kinase deficiency
Gordon Holmes syndrome
Greenberg dysplasia
hereditary systemic amyloidosis 1
hereditary systemic amyloidosis 2
HRPT-related hyperuricemia
hyperphosphatemic familial tumoral calcinosis
hyposulfatemia with skeletal dysplasia
immunoglobulin light chain amyloidosis
infantile hypercalcemia 1
infantile hypercalcemia 2
isolated elevated serum creatine phosphokinase levels
isolated sulfite oxidase deficiency
lipid metabolism disorder +
lysosomal storage disease +
metal metabolism disorder +
multiple acyl-CoA dehydrogenase deficiency
peroxisomal disease +
phosphoribosylpyrophosphate synthetase superactivity
plasma protein metabolism disease +
poor metabolism of thiopurines +
porphyria +
primary cutaneous amyloidosis +
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
trimethylaminuria
variant ABeta2M amyloidosis
vitamin metabolic disorder +
warfarin resistance
warfarin sensitivity
X-linked warfarin sensitivity

adult-onset ataxia and polyneuropathy
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
ethylmalonic encephalopathy
GRACILE syndrome
mitochondrial complex I deficiency +
mitochondrial complex II deficiency
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
mitochondrial DNA depletion syndrome +
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple mitochondrial dysfunctions syndrome +
NARP syndrome
neonatal severe encephalopathy with lactic acidosis and brain abnormalities
neurodevelopmental disorder with ataxia and brain abnormalities
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Pearson syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis