Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
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