• 17-beta-hydroxysteroid dehydrogenase deficiency

• 2-Hydroxyglutaric aciduria

• 3-Methylcrotonyl-CoA carboxylase deficiency

• Abdallat Davis Farrage syndrome
• Abderhalden-Kaufmann-Lignac syndrome
• Abetalipoproteinemia
• Ablepharon macrostomia syndrome
• Acatalasia
• Aceruloplasminemia
• Acheiropodia
• Acrocallosal syndrome
• Acrodermatitis enteropathica
• Acute fatty liver of pregnancy
• Adducted thumb syndrome
• Adenine phosphoribosyltransferase deficiency
• Adenosine deaminase deficiency
• Adenylosuccinate lyase deficiency
• Aicardi-Goutieres syndrome
• Aldolase A deficiency
• Alkaptonuria
• Alpha-mannosidosis
• Antley-Bixler syndrome
• Argininemia
• Argininosuccinic aciduria
• Arterial tortuosity syndrome
• Aspartylglucosaminuria
• Atelosteogenesis, type II
• Atransferrinemia

• Bare lymphocyte syndrome
• Batten disease
• Behr's syndrome
• Bernard-Soulier syndrome
• Beta-ketothiolase deficiency
• Beta-mannosidosis
• Bietti's crystalline dystrophy
• Biotinidase deficiency
• Bloom syndrome
• Blue diaper syndrome

• CAMFAK syndrome
• Canavan disease
• Carbamoyl phosphate synthetase I deficiency
• Carnitine palmitoyltransferase I deficiency
• Carnitine palmitoyltransferase II deficiency
• Carnitine-acylcarnitine translocase deficiency
• Carnosinemia
• Carpenter syndrome
• Cartilage-hair hypoplasia
• Cenani Lenz syndactylism
• Cerebrotendineous xanthomatosis
• Chediak-Higashi syndrome
• Chondrodystrophy
• Chorea acanthocytosis
• Citrullinemia
• Cockayne syndrome
• Congenital adrenal hyperplasia
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Congenital hepatic fibrosis
• Congenital ichthyosiform erythrodema
• Congenital insensitivity to pain with anhidrosis
• Craniodiaphyseal dysplasia
• Cystathioninuria
• Cystic fibrosis
• Cystinosis
• Cystinuria

• D-Glyceric acidemia
• Diastrophic dysplasia
• Dihydropyrimidine dehydrogenase deficiency
• Donohue syndrome
• Dubin-Johnson syndrome
• Dubowitz syndrome

• EEM syndrome
• Ellis-van Creveld syndrome
• Essential fructosuria
• Ethylmalonic encephalopathy

• Familial Mediterranean fever
• Familial dysautonomia
• Familial isolated vitamin E deficiency
• Fanconi anemia
• Farber disease
• Fibrochondrogenesis
• Fountain syndrome
• Fraser syndrome
• Friedreich's ataxia
• Fucosidosis
• Fumarase deficiency

• GM2-gangliosidosis, AB variant
• Galactokinase deficiency
• Galactose epimerase deficiency
• Galactose-1-phosphate uridylyltransferase galactosemia
• Galloway Mowat syndrome
• Gangliosidosis
• Gastroschisis
• Gaucher's disease
• Gerodermia osteodysplastica
• Giant axonal neuropathy
• Gitelman syndrome
• Glanzmann's thrombasthenia
• Glucose-galactose malabsorption
• Glutaric acidemia type 2
• Glutaric aciduria type 1
• Glutathione synthetase deficiency
• Glycogen storage disease type I
• Glycogen storage disease type II
• Glycogen storage disease type III
• Glycogen storage disease type V
• Phosphofructokinase deficiency
• Griscelli syndrome
• Guanidinoacetate methyltransferase deficiency
• Gunther disease

• Harlequin type ichthyosis
• Hartnup disease
• Hemophagocytic lymphohistiocytosis
• Hereditary pyropoikilocytosis
• Hermansky-Pudlak syndrome
• Histidinemia
• Holocarboxylase synthetase deficiency
• Homocystinuria
• Hurler syndrome
• Hyperlysinemia
• Hypermethioninemia
• Hyperprolinemia
• Hypertryptophanemia
• Hypervalinemia

• ICF syndrome
• Ichthyosis lamellaris
• Impossible syndrome
• Infantile free sialic acid storage disease
• Infantile neuroaxonal dystrophy
• Isobutyryl-coenzyme A dehydrogenase deficiency
• Isovaleric acidemia

• Jervell and Lange-Nielsen syndrome
• Juvenile Primary Lateral Sclerosis

• Kaufman oculocerebrofacial syndrome
• Keutel syndrome
• Kindler syndrome
• Krabbe disease
• Kugelberg-Welander disease

• Lafora disease
• Laron syndrome
• Lecithin cholesterol acyltransferase deficiency
• Leukocyte adhesion deficiency
• Lipoid congenital adrenal hyperplasia
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Lucey-Driscoll syndrome
• Lysinuric protein intolerance

• Malonyl-CoA decarboxylase deficiency
• Maple syrup urine disease
• Meckel syndrome
• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Meleda disease
• Metachromatic leukodystrophy
• Methemoglobinemia
• Methylmalonic acidemia
• Mevalonic aciduria
• Micro syndrome
• Microvillous inclusion disease
• Mitochondrial trifunctional protein deficiency
• Morquio syndrome
• Mucolipidosis
• Mucolipidosis type IV
• Mucopolysaccharidosis

• N-Acetylglutamate synthase deficiency
• Nemaline myopathy
• Nephronophthisis
• Netherton syndrome
• Nezelof syndrome
• Niemann-Pick disease

• Ochronosis
• Oculodentodigital syndrome
• Oguchi disease
• Omenn syndrome
• Ornithine translocase deficiency
• Orotic aciduria
• Otospondylomegaepiphyseal dysplasia

• Papillon-Lefevre syndrome
• Pendred syndrome
• Persistent Mullerian duct syndrome
• Phenylketonuria
• Primary carnitine deficiency
• Primary ciliary dyskinesia
• Progressive external ophthalmoplegia
• Prolidase deficiency
• Propionic acidemia
• Pseudodominance
• Pseudoxanthoma elasticum
• Purine nucleoside phosphorylase deficiency
• Pyruvate carboxylase deficiency

• Rabson-Mendenhall syndrome
• Raine syndrome
• Rapadilino syndrome
• Recessive multiple epiphyseal dysplasia
• Renal dysplasia-limb defects syndrome
• Renal-hepatic-pancreatic dysplasia
• Reproductive compensation
• Restrictive dermopathy
• Richner Hanhart syndrome
• Rothmund-Thomson syndrome
• Rotor syndrome

• Sabinas brittle hair syndrome
• Saccharopinuria
• Salla disease
• Sandhoff disease
• Sanfilippo syndrome
• Sarcosinemia
• Short-chain acyl-coenzyme A dehydrogenase deficiency
• Shwachman-Diamond syndrome
• Sickle-cell disease
• Situs inversus
• Sly syndrome
• Smith-Lemli-Opitz syndrome
• Succinic semialdehyde dehydrogenase deficiency
• Sugarman syndrome

• Tangier disease
• Tay-Sachs disease
• Tetrahydrobiopterin deficiency
• Thalassemia
• Trimethylaminuria
• Triosephosphate isomerase deficiency
• Type I tyrosinemia
• Type II tyrosinemia
• Type III tyrosinemia
• Tyrosinemia

• Urbach–Wiethe disease
• Urocanic aciduria
• User:NorbertHerbert/CIE
• User:NorbertHerbert/Ichthyosis hystrix
• Usher syndrome

• Very long-chain acyl-coenzyme A dehydrogenase deficiency
• Vici syndrome

• Weissenbacher-Zweymüller syndrome
• Werdnig-Hoffman disease
• Werner syndrome
• Wilson's disease
• Wolman disease
• Woodhouse-Sakati syndrome

• Yunis-Varon syndrome

• Xeroderma pigmentosum

• ZAP70 deficiency
• Zazam Sheriff Phillips syndrome
• Zunich-Kaye syndrome