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 ovarian dysgenesis-short stature syndrome

Autosomal recessive

Adolescent

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 difference of sex development

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 gonadal dysgenesis-motor and sensory neuropathy syndrome

Autosomal recessive

Infancy, Neonatal

46,XY ovotesticular difference of sex development

Antenatal, 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

4H leukodystrophy

Adolescent, Adult, Childhood, Infancy

4p16.3 microduplication syndrome

Infancy, Neonatal