– spinocerebellar degenerations – Friedreich's ataxia – myoclonic cerebellar dyssynergia – olivopontocerebellar atrophies – spinocerebellar ataxias – Machado–Joseph disease – Tourette syndrome – tuberous sclerosis – Unverricht–Lundborg syndrome – hyperthyroxinemia, familial dysalbuminemic – Jervell and Lange-Nielsen syndrome – kallmann syndrome – kartagener syndrome – marfan syndrome – metabolism, inborn errors – amino acid metabolism, inborn errors – albinism – albinism, ocular – albinism, oculocutaneous – Hermansky–Pudlak syndrome – piebaldism – alkaptonuria – aminoaciduria, renal – cystinuria – Hartnup disease – carbamoyl-phosphate synthase I deficiency disease – citrullinemia – homocystinuria – hyperargininemia – hyperglycinemia, nonketotic – hyperhomocysteinemia – hyperlysinemias – maple syrup urine disease – multiple carboxylase deficiency – biotinidase deficiency – holocarboxylase synthetase deficiency – ornithine carbamoyltransferase deficiency disease – phenylketonurias – phenylketonuria, maternal – tyrosinemias – amino acid transport disorders, inborn – Hartnup disease – oculocerebrorenal syndrome – amyloidosis, familial – amyloid neuropathies, familial – cerebral amyloid angiopathy, familial – brain diseases, metabolic, inborn – abetalipoproteinemia – carbamoyl-phosphate synthase I deficiency disease – cerebral amyloid angiopathy, familial – citrullinemia – galactosemias – Hartnup disease – hepatolenticular degeneration – homocystinuria – hyperargininemia – hyperglycinemia, nonketotic – hyperlysinemias – Leigh disease – Lesch–Nyhan syndrome – lysosomal storage diseases, nervous system – fucosidosis – glycogen storage disease type II – mucolipidoses – sialic acid storage disease – sphingolipidoses – Fabry disease – gangliosidoses – gangliosidoses GM2 – Sandhoff disease – Tay–Sachs disease – Tay–Sachs disease, AB variant – gangliosidosis GM1 – Gaucher disease – leukodystrophy, globoid cell – leukodystrophy, metachromatic – Niemann–Pick diseases – maple syrup urine disease – MELAS syndrome – Menkes kinky hair syndrome – MERRF syndrome – oculocerebrorenal syndrome – ornithine carbamoyltransferase deficiency disease – peroxisomal disorders – adrenoleukodystrophy – Refsum disease – Zellweger syndrome – phenylketonurias – phenylketonuria, maternal – pyruvate carboxylase deficiency disease – pyruvate dehydrogenase complex deficiency disease – tyrosinemias – carbohydrate metabolism, inborn errors – carbohydrate-deficient glycoprotein syndrome – fructose metabolism, inborn errors – fructose-1,6-diphosphatase deficiency – Hereditary fructose intolerance – fucosidosis – galactosemias – glycogen storage disease – glycogen storage disease type I – glycogen storage disease type II – glycogen storage disease type IIb – glycogen storage disease type III – glycogen storage disease type IV – glycogen storage disease type V – glycogen storage disease type VI – glycogen storage disease type VII – glycogen storage disease type VIII – hyperoxaluria, primary – lactose intolerance – mannosidase deficiency diseases – alpha-mannosidosis –