Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
16p13.3 microduplication syndrome
Infancy, Neonatal
16q24.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
16q24.3 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
17p11.2 microduplication syndrome
Not applicable
Childhood, Infancy, Neonatal
17p13.3 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
17q11 microdeletion syndrome
Not applicable
Antenatal, Infancy, Neonatal
17q11.2 microduplication syndrome
Autosomal dominant
Infancy, Neonatal
17q12 microdeletion syndrome
Not applicable
Antenatal, Infancy, Neonatal
17q12 microduplication syndrome
Antenatal, Infancy, Neonatal
17q21.31 microdeletion syndrome
Autosomal dominant
Infancy, Neonatal
17q21.31 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
17q23.1q23.2 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
17q24.2 microdeletion syndrome
Not applicable
Antenatal, Neonatal
19p13.12 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
19p13.13 microdeletion syndrome
Unknown
Infancy, Neonatal
19p13.3 microduplication syndrome
Unknown
Antenatal, Neonatal
19q13.11 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
1p21.3 microdeletion syndrome
Unknown
No data available
1p31p32 microdeletion syndrome
Unknown
Neonatal
1p35.2 microdeletion syndrome
Not applicable
Neonatal
1p36 deletion syndrome
Multigenic/multifactorial, Not applicable
Antenatal, Neonatal
1p36.33 duplication syndrome
Not applicable
1q21.1 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
1q21.1 microduplication syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal