Chromosome 16p13.3 duplication syndrome is a rare genetic condition. It happens when a small extra piece of DNA is present on the short arm (p arm) of ...

Chromosome 16p12.2-p11.2 deletion syndrome is a very rare genetic condition. A small piece is missing (deleted) from the short arm of chromosome 16, between ...

Proximal 16p11.2 microduplication syndrome is a rare genetic condition. A tiny part of chromosome 16, in a region called 16p11.2, is copied one extra time. ...

Proximal 16p11.2 microduplication syndrome is a genetic condition where a very small piece of chromosome 16, at a place called 16p11.2, is copied one extra ...

Chromosome 16p11.2 duplication syndrome is a genetic condition where a small piece of chromosome 16 is copied one extra time. This extra copy sits on the short ...

Chromosome 16 trisomy means there are three copies of chromosome 16 instead of the usual two. This extra chromosome is present in the baby’s cells and changes ...

Drayer syndrome is a rare genetic (chromosomal) condition where a person is missing a small piece from the end (qter) of the long arm (q) of chromosome 15, ...

Chromosome 15q26-qter deletion syndrome is a very rare genetic condition. In this condition, a small piece is missing from the long arm (q-arm) of chromosome ...

Chromosome 15q25 deletion syndrome is a rare genetic condition. In this condition, a small piece of genetic material is missing (deleted) from the long arm (q ...

Chromosome 15q24 deletion syndrome is a rare genetic condition where a small part of the long arm (q arm) of chromosome 15, in the 15q24 region, is missing. ...

Chromosome 15q13.3 microdeletion syndrome happens when a tiny piece is missing (deleted) from the long arm (q) of chromosome 15, in a place called q13.3. This ...

Chromosome 15q11.2 deletion syndrome happens when a very tiny piece is missing from the long arm (q arm) of chromosome 15, in a place called 15q11.2. This ...

Chromosome 13q14 deletion syndrome is a rare genetic condition that happens when a small piece of the long arm (q arm) of chromosome 13 is missing in the 13q14 ...

Chromosome 10q23 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome 10, ...

Chromosome 1 is the largest human chromosome. It has a short arm called “p” and a long arm called “q.” The region between bands 1q12 and 1q21 is a stretch on ...

X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome is a very rare genetic brain disorder. Doctors ...

X-linked Angelman-like syndrome is a very rare brain and nerve (neurologic) condition that mostly affects boys. It happens when there is a change (mutation) in ...

SLC9A6-related syndromic mental retardation is a rare genetic brain disorder that mainly affects boys and leads to severe intellectual disability, problems ...

Intellectual disability, microcephaly, epilepsy, and ataxia syndrome is the long, descriptive name for a very rare brain development condition that most ...

X-linked syndromic intellectual developmental disorder is not just one disease. It is a big group of rare genetic conditions where a child has intellectual ...