46,XX difference of sex development-skeletal anomalies syndrome

Unknown

No data available

46,XX gonadal dysgenesis

Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Adolescent, Adult

46,XX ovotesticular difference of sex development

Autosomal dominant, Autosomal recessive

Adolescent, Antenatal, Neonatal

46,XX testicular difference of sex development

Autosomal dominant

Adolescent, Antenatal, Neonatal

46,XY complete gonadal dysgenesis

Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked

Adolescent, Adult

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Autosomal recessive

Infancy, Neonatal

46,XY partial gonadal dysgenesis

Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked

Infancy, Neonatal

47,XYY syndrome

Not applicable

All ages

48,XXXY syndrome

Not applicable, Unknown

Antenatal, Infancy, Neonatal

48,XXYY syndrome

Not applicable, Unknown

Adolescent, Childhood, Infancy, Neonatal

48,XYYY syndrome

Antenatal, Infancy, Neonatal

49,XXXXY syndrome

Not applicable, Unknown

Childhood

49,XXXYY syndrome

Neonatal

49,XYYYY syndrome

Antenatal, Infancy, Neonatal

4p16.3 microduplication syndrome

Infancy, Neonatal

4q21 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

4q25 proximal deletion syndrome

Infancy

5p13 microduplication syndrome

Not applicable, Unknown

Infancy, Neonatal

5q35 microduplication syndrome

Not applicable, Unknown

Childhood

6p22 microdeletion syndrome

Not applicable, Unknown

Infancy, Neonatal

6q terminal deletion syndrome

Not applicable, Unknown

Infancy, Neonatal

6q25.2q25.3 microdeletion syndrome

Not applicable

Infancy, Neonatal

7p22.1 microduplication syndrome

Autosomal recessive

Infancy, Neonatal

7q11.23 microduplication syndrome

Infancy, Neonatal