1q41q42 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

1q44 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

2-aminoadipic 2-oxoadipic aciduria

Autosomal recessive

Childhood, Infancy

2-hydroxyglutaric aciduria

Autosomal dominant, Autosomal recessive

Childhood

2-methylbutyryl-CoA dehydrogenase deficiency

Autosomal recessive

Infancy, Neonatal

20p12.3 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

20p13 microdeletion syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

20q11.2 microdeletion syndrome

Not applicable

Antenatal, Neonatal

20q11.2 microduplication syndrome

Infancy, Neonatal

20q13.33 microdeletion syndrome

Not applicable

Neonatal

21q deletion syndrome

Antenatal, Neonatal

21q22.11q22.12 microdeletion syndrome

Not applicable

Infancy, Neonatal

22q11.2 deletion syndrome

Autosomal dominant

All ages

22q11.2 duplication syndrome

Autosomal dominant

All ages

2p13.2 microdeletion syndrome

Autosomal dominant

Infancy, Neonatal

2p15p16.1 microdeletion syndrome

Not applicable

Antenatal, Infancy, Neonatal

2p21 microdeletion syndrome

Autosomal recessive

Infancy, Neonatal

2p21 microdeletion syndrome without cystinuria

Autosomal recessive

Infancy, Neonatal

2p25.3 microduplication syndrome

Autosomal dominant

2q13 microdeletion syndrome

Autosomal dominant

2q23.1 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

2q23.1 microduplication syndrome

Not applicable, Unknown

Infancy, Neonatal

2q31.1 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

2q32q33 deletion syndrome

Not applicable, Unknown

Infancy, Neonatal