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...
Hemophilia is a rare, inherited bleeding disorder where the blood doesn't clot properly due to the absence or low levels of specific clotting factors....
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple body systems, usually starting in early childhood. It is inherited in an autosomal...
Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from...
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...
Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in infants. It is primarily caused by...