Disease Directory

Chromosome 16p12.1 deletion syndrome, 520kb, is characterized by a deletion of 520 kb at the 16p12.1 locus. Clinically, individuals with this conditio...

Chromosome 16p12.2-p11.2 deletion syndrome is a recently described condition characterized primarily by global developmental delay, intellectual disab...

chromosome 16p13.3 deletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 16p13.3 duplication syndrome is a rare chromosomal anomaly characterized by a partial duplication of the short arm of chromosome 16. This c...

Chromosome 16q12 duplication syndrome is characterized by an autosomal dominant inheritance pattern. While a specific genetic basis has not yet been i...

Chromosome 16q22 deletion syndrome is characterized by a range of clinical features, though a specific genetic basis has not been identified. The inhe...

Chromosome 17 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 17P13.3, telomeric, duplication syndrome is characterized by an autosomal dominant inheritance pattern. While no specific genes have been i...

Chromosome 17p deletion is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 17p13.1 deletion syndrome is characterized by an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene in...

Chromosome 17p13.3 duplication syndrome is a very rare neurodevelopmental and multi-system condition caused by having an extra piece of genetic materi...

Chromosome 17q11.2 deletion syndrome, 1.4Mb is a rare and severe form of neurofibromatosis type 1 (NF1) characterized by a range of clinical features...

Chromosome 17q12 deletion syndrome, sometimes called 17q12 microdeletion syndrome, is a multi-system condition caused by the loss of a small segment o...

Chromosome 17q12 duplication syndrome is a rare chromosomal anomaly characterized by a range of developmental and neurological challenges. This condit...

chromosome 17q21.31 duplication syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

Chromosome 17q23.1-q23.2 deletion syndrome is characterized by a range of developmental issues and physical anomalies. Key clinical features include g...

Chromosome 18 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 18 mosaic monosomy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

chromosome 18 pericentric inversion is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Chromosome 18p deletion syndrome, also known as monosomy 18p, is a chromosomal disorder characterized by the deletion of all or part of the short arm...