Disease Directory

Chromosome 12 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 12p deletion is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 13 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

chromosome 13p duplication is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

chromosome 13q trisomy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

chromosome 13q-mosaicism is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 13q14 deletion syndrome is characterized by a partial deletion of the long arm of chromosome 13, leading to various developmental and physi...

Chromosome 13q33-q34 deletion syndrome is characterized by a range of clinical features, primarily associated with abnormal facial morphology and hypo...

Chromosome 14 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 14q11-q22 deletion syndrome is characterized by developmental delay, hypotonia, and facial dysmorphism. The condition is classified as spor...

Chromosome 15 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 15q11.2 deletion syndrome is a rare genetic condition characterized by a partial monosomy affecting chromosome 15. It is associated with a...

Chromosome 15q13.3 microdeletion syndrome is an autosomal dominant condition characterized by a range of neurodevelopmental disorders. While no specif...

Chromosome 15q24 deletion syndrome is a multisystem condition caused by a small missing segment of chromosome 15 that removes several genes, including...

Chromosome 15q25 deletion syndrome is characterized by an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene from...

Chromosome 15q26-qter deletion syndrome, also known as 15q26 deletion syndrome, is characterized by a range of clinical features including pre- and po...

Chromosome 16 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 16 inversion, 0.45-Mb is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 16 trisomy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 16p11.2 duplication syndrome is a rare chromosomal anomaly caused by a partial duplication of the short arm of chromosome 16. It is charact...