14q32 duplication syndrome

Adult

16q24.1 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

1p36.33 duplication syndrome

Not applicable

2-aminoadipic 2-oxoadipic aciduria

Autosomal recessive

Childhood, Infancy

2-methylbutyryl-CoA dehydrogenase deficiency

Autosomal recessive

Infancy, Neonatal

2p21 microdeletion syndrome

Autosomal recessive

Infancy, Neonatal

3-hydroxy-3-methylglutaric aciduria

Autosomal recessive

All ages

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Autosomal recessive

Childhood

3-hydroxyisobutyric aciduria

Antenatal, Neonatal

3-methylcrotonyl-CoA carboxylase deficiency

Autosomal recessive

All ages

3-methylglutaconic aciduria type 1

Autosomal recessive

Infancy, Neonatal

3-methylglutaconic aciduria type 3

Autosomal recessive

Childhood

3-methylglutaconic aciduria type 4

Autosomal recessive

Infancy, Neonatal

3-methylglutaconic aciduria type 8

Autosomal recessive

Neonatal

3-methylglutaconic aciduria type 9

Autosomal recessive

Infancy

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

Autosomal recessive

Antenatal, Neonatal

46,XX ovarian dysgenesis-short stature syndrome

Autosomal recessive

Adolescent

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Autosomal recessive

Adolescent, Neonatal

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

Autosomal recessive

Adolescent, Childhood, Infancy, Neonatal

46,XY difference of sex development due to isolated 17,20-lyase deficiency

Autosomal recessive

Neonatal

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

Autosomal recessive

Neonatal

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

46,XY ovotesticular difference of sex development

Antenatal, Neonatal

4H leukodystrophy

Adolescent, Adult, Childhood, Infancy