Disease Directory

10p13-p14 deletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

10p15 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

10q22.3q23.3 microduplication syndrome is a rare genetic condition caused by having an extra copy (duplication) of a small section of chromosome 10. T...

11p15.4 microduplication syndrome is a very rare chromosomal disorder caused by an extra piece of genetic material on the short arm of chromosome 11....

11q22.2q22.3 microdeletion syndrome is a rare condition that has been recognized by international rare disease resources such as Orphanet and GARD. Th...

12p12.1 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

12q14 microdeletion syndrome is a rare condition that has been reported in four unrelated patients. People with this condition often show mild intelle...

12q15q21.1 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

13q12.3 microdeletion syndrome is a rare chromosomal anomaly that affects many aspects of development. People with this condition may have moderate in...

14q11.2 microduplication syndrome is a rare chromosomal anomaly caused by an extra copy of a segment on the long arm of chromosome 14. This condition...

14q12 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Information about overview is currently limited for this condition.

14q32 duplication syndrome is a rare genetic condition that occurs when a person has an extra copy of a small section of chromosome 14. This chromosom...

15q overgrowth syndrome is a rare chromosomal disorder characterized by an extra copy of a segment on chromosome 15 that leads to partial trisomy or t...

15q11q13 microduplication syndrome is a condition that primarily affects neurodevelopment, with individuals experiencing significant cognitive challen...

15q14 microdeletion syndrome is a multisystem condition that results from the loss of a small segment of genetic material on the long arm of chromosom...

16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly that occurs when a small part of the short arm of chromosome 16 is duplicated. Th...

16p12.1p12.3 triplication syndrome is a rare chromosomal condition that occurs due to an extra copy of a part of the short arm of chromosome 16. This...

16p13.11 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

16p13.11 microduplication syndrome is a recently described condition that presents with a range of clinical features, including behavioral abnormaliti...