8q12 microduplication syndrome is a condition resulting from an extra copy of genetic material in the 8q12 region, associated with a distinct set of m...

8q22.1 microdeletion syndrome, also known as Nablus mask-like facial syndrome, is a condition characterized by a distinct facial appearance that inclu...

8q24.3 microdeletion syndrome is a multi-system disorder characterized by a deletion in the 8q24.3 region of chromosome 8, which involves the gene PUF...

9p13 microdeletion syndrome is a rare chromosomal anomaly resulting from a partial interstitial deletion of the short arm of chromosome 9. The conditi...

9q21.13 microdeletion syndrome is a rare genetic condition that primarily affects neurodevelopment, with affected individuals presenting with global d...

9q31.1q31.3 microdeletion syndrome is a condition caused by a small deletion on a segment of the long arm of chromosome 9. Although the precise set of...

9q33.3q34.11 microdeletion syndrome is a chromosomal disorder resulting from a deletion in the 9q33.3q34.11 region. Although detailed clinical data ar...

A20 haploinsufficiency, also known as HA20, is a rare immune dysregulation condition. It is caused by a mutation in the TNFAIP3 gene, which plays a ro...

A4GALT-congenital disorder of glycosylation is a type of congenital disorder of glycosylation, a group of conditions that affect the process by which...

A53 diffuse large B-cell lymphoma is a type of malignant lymphoma that affects the lymphatic system and is characterized by widespread proliferation o...

AA amyloidosis, also known as secondary amyloidosis or reactive amyloidosis, is an acquired condition that complicates chronic inflammatory disorders...

Aagenaes syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis that tends to lessen over time and by severe chronic l...

AApoAI amyloidosis is a disorder characterized by the deposition of misfolded apolipoprotein A-I protein, a process that leads to organ dysfunction, p...

AApoAIV amyloidosis is a condition characterized by the deposition of amyloid material derived from apolipoprotein A-IV. It is classified among the sy...

AARS1-related leukoencephalopathy is a disorder affecting the brain’s white matter, and several recognized subtypes have been described, including her...

Aarskog-Scott syndrome, also known as faciodigitogenital dysplasia, is a rare developmental disorder primarily affecting growth and the skeletal syste...

Aase-Smith syndrome is a very rare congenital disorder characterized by a cluster of malformations including hydrocephalus due to a Dandy-Walker anoma...

ABCA4-related retinopathy is an inherited disorder primarily affecting the retina and, consequently, vision. Recognized subtypes – including retinitis...

Abdominal cystic lymphangioma is a rare, benign condition that involves an abnormal formation of lymphatic vessels in the abdomen. The lymphatic vesse...

Information about overview is currently limited for this condition.