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3-oxothiolase deficiency is a rare, inherited metabolic disorder. The body cannot properly break down the amino acid isoleucine. The body also cannot use ketone bodies well....
3C syndrome, also known as Ritscher–Schinzel syndrome or cranio-cerebello-cardiac (CCC) dysplasia, is a rare autosomal recessive disorder characterized by a classic triad of craniofacial anomalies, cerebellar...
3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from the end...
3q29 recurrent microdeletion syndrome is a rare genetic condition. In this condition, a tiny piece is missing (deleted) from the long arm of chromosome 3, in...
4-layered lissencephaly is a “smooth brain” condition where the outer part of the brain (the cerebral cortex) does not form normal folds (gyri) and grooves (sulci),...
4p- syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic condition that affects individuals from birth. In this article, we’ll explore 4p- syndrome in simple,...
5-amino-4-imidazole carboxamide ribosiduria is an ultra-rare, inherited metabolic disease that affects how the body makes purines, the building blocks of DNA, RNA, and energy molecules. The...
6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency is a rare genetic condition that reduces the body’s supply of tetrahydrobiopterin (BH4). BH4 is a natural helper molecule (a “cofactor”). Your...
6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) is a rare genetic condition where...
AA-amyloidosis is a disease where an abnormal protein called AA (amyloid A) slowly builds up in body tissues and organs. This protein comes from another protein...
Aagenaes syndrome is a rare genetic disorder that affects the lymphatic system, causing various health issues. In this comprehensive guide, we will break down this condition...
AARS Charcot-Marie-Tooth disease type 2, often called CMT2N, is a very rare inherited nerve disease. It mainly affects the long nerves to the feet and hands,...
