MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

16p13.3 microduplication syndrome

ORPHA:96078Malf.

16q24.1 microdeletion syndrome

ORPHA:352629Kr.
Not applicable, Unknown

16q24.3 microdeletion syndrome

ORPHA:261250Malf.
Not applicable, Unknown

17p11.2 microduplication syndrome

ORPHA:1713Malf.
Not applicable

17p13.3 microduplication syndrome

ORPHA:217385Malf.
Not applicable, Unknown

17q11 microdeletion syndrome

ORPHA:97685Kl. subt.
Not applicable

17q11.2 microduplication syndrome

ORPHA:139474Malf.
Autosomal dominant

17q12 microdeletion syndrome

ORPHA:261265Malf.
Not applicable

17q12 microduplication syndrome

ORPHA:261272Malf.

17q21.31 microdeletion syndrome

ORPHA:363958Ätl. subt.
Autosomal dominant

17q21.31 microduplication syndrome

ORPHA:217340Malf.
Not applicable, Unknown

17q23.1q23.2 microdeletion syndrome

ORPHA:261279Malf.
Not applicable, Unknown

17q24.2 microdeletion syndrome

ORPHA:529962Malf.
Not applicable

19p13.12 microdeletion syndrome

ORPHA:254346Malf.
Not applicable, Unknown

19p13.13 microdeletion syndrome

ORPHA:357001Malf.
Unknown

19p13.3 microduplication syndrome

ORPHA:447980Malf.
Unknown

19q13.11 microdeletion syndrome

ORPHA:217346Malf.
Not applicable, Unknown

1p21.3 microdeletion syndrome

ORPHA:293948Malf.
Unknown

1p31p32 microdeletion syndrome

ORPHA:401986Malf.
Unknown

1p35.2 microdeletion syndrome

ORPHA:456298Malf.
Not applicable

1p36 deletion syndrome

ORPHA:1606Malf.
Multigenic/multifactorial, Not applicable

1p36.33 duplication syndrome

ORPHA:656279Kr.
Not applicable

1q21.1 microdeletion syndrome

ORPHA:250989Malf.
Autosomal dominant, Not applicable

1q21.1 microduplication syndrome

ORPHA:250994Malf.
Autosomal dominant, Not applicable