4-hydroxyphenylacetic aciduria is a condition for which detailed clinical and biochemical characterization remains limited. The available clinical dat...

4p16.3 microduplication syndrome is a chromosomal disorder caused by a partial duplication of the short arm of chromosome 4. Individuals with this con...

4q25 proximal deletion syndrome is a condition resulting from a chromosomal deletion in the proximal region of the long arm of chromosome 4. Although...

5-fluorouracil poisoning is an intoxication that arises from the prolonged, low-dose administration of the chemotherapeutic agent 5-fluorouracil, a ke...

5-nucleotidase syndrome, also known as 5'-Nucleotidase syndrome or 5'NT syndrome, is a condition whose full clinical and biological profile remains in...

5-oxoprolinase deficiency is a metabolic condition characterized by the abnormal excretion of 5-oxoproline in the urine, reflecting a heterogeneous cl...

5q14.3 microdeletion syndrome is a condition primarily affecting the nervous system and eyes, characterized by severe neurodevelopmental impairment in...

5q35 microduplication syndrome is a chromosomal condition characterized by microcephaly, short stature, developmental delay, and delayed bone maturati...

6p22 microdeletion syndrome is a condition caused by a chromosomal deletion on the short arm of chromosome 6 and is characterized by a variable clinic...

6-phosphogluconate dehydrogenase deficiency is a condition characterized by an enzyme deficiency whose detailed biological basis is still under invest...

6q16 deletion syndrome is a chromosomal deletion disorder that presents with features similar to Prader-Willi syndrome, including obesity, hyperphagia...

6q25.1 microdeletion syndrome is a condition caused by a small deletion on the long arm of chromosome 6, though specific clinical details and affected...

6q terminal deletion syndrome is a condition characterized by a distinct facial dysmorphism and neurodevelopmental challenges, including delays in spe...

7p22.1 microduplication syndrome is a rare chromosomal anomaly characterized by a partial duplication of the short arm of chromosome 7. Individuals wi...

7q11.23 microduplication syndrome is a chromosomal copy-number condition caused by an extra segment on the long arm of chromosome 7. The duplication a...

Information about the overview is currently limited for this condition.

8p11.2 deletion syndrome is a condition characterized by a deletion on the short arm of chromosome 8 that results in a contiguous gene syndrome. The c...

8p23.1 duplication syndrome is a chromosomal anomaly characterized by a partial duplication of the short arm of chromosome 8. It is primarily associat...

8p23.1 microdeletion syndrome is a condition resulting from a partial deletion on the short arm of chromosome 8. Affected individuals can exhibit feat...

8p inverted duplication/deletion syndrome is a rare chromosomal anomaly that primarily affects neurodevelopment and involves both the nervous and card...