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 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

2q37 microdeletion syndrome

Autosomal dominant, Not applicable

Neonatal

3C syndrome

Autosomal recessive, X-linked recessive

Antenatal, Infancy, Neonatal

3M syndrome

Autosomal recessive

Antenatal

3MC syndrome

Autosomal recessive

Antenatal, Neonatal

3p25.3 microdeletion syndrome

Not applicable

Infancy, Neonatal

3q13 microdeletion syndrome

Not applicable

Antenatal, Neonatal

3q26 microduplication syndrome

Antenatal, Neonatal

3q26q28 deletion syndrome

Autosomal dominant

3q29 microdeletion syndrome

Autosomal dominant

Infancy, Neonatal

3q29 microduplication syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

45,X/46,XY mixed gonadal dysgenesis

Not applicable, Unknown

All ages

46,XX difference of sex development-anorectal anomalies syndrome

Neonatal