Cohen syndrome, also known as Norio syndrome in Finnish populations, is a rare autosomal recessive genetic disorder that affects multiple body systems—hence it is classified as a syndrome. It...
Cohen syndrome, also known as Norio syndrome in Finnish populations, is a rare autosomal recessive genetic disorder that affects multiple body systems—hence it is...
A hydrocele is a fluid-filled sac within the scrotum (skin pouch that houses the testicles). The disorder most commonly affects male infants but may...
Hypotrichosis is a condition characterized by an abnormal deficiency of hair on the scalp or body. It may affect various areas, including the scalp,...
Blue baby syndrome, also referred to as infant methemoglobinemia (when caused by nitrate exposure), is a rare condition characterized by a bluish or purplish...
Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a rare genetic disorder that causes neurodevelopmental...