Disease Directory

Kilquist syndrome is a rare genetic condition that affects multiple systems in the body. It is an autosomal recessive disorder, which means that two c...

Kimura disease is a chronic, benign inflammatory condition that mainly appears in Asian countries and mostly affects young men. It typically shows up...

Kindler syndrome (KS) is a rare inherited condition that is part of the epidermolysis bullosa group, which also includes the simplex, junctional, and...

King-Denborough syndrome is a rare genetic disorder that affects the muscles and the development of certain body features. It is known as a genetic no...

Kleefstra syndrome is a genetic disorder marked by intellectual disability, reduced muscle tone in childhood, a severe delay in expressive speech, and...

Kleefstra syndrome 1, also known by names such as 9q-syndrome, KLEFS1, Kleefstra syndrome, and chromosome 9q34.3 deletion syndrome, is a rare conditio...

Kleefstra syndrome 2, also known as KLEFS2, is a rare genetic condition that is linked to changes in the KMT2C gene. It is referenced in important med...

Information about the overall nature of this condition is currently limited for this condition. Kleefstra syndrome due to 9q34 microdeletion is a rare...

Information about the overview of Kleefstra syndrome due to a point mutation is currently limited. This condition is registered in well-known rare dis...

Kleine-Levin syndrome is a rare neurological disorder characterized by relapsing-remitting episodes of excessive sleepiness along with cognitive and b...

Klinefelter syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (also known as KFS4) is a rare condition that appears to affect the development of the bones...

Klippel-Feil syndrome is a congenital musculoskeletal condition where at least two of the neck vertebrae are fused together. This fusion can lead to a...

Klippel-Feil syndrome 1, autosomal dominant is a rare condition that occurs because of a mutation in the GDF6 gene. This condition is described as an...

Klippel-Feil syndrome 2, autosomal recessive is a type of isolated Klippel-Feil syndrome that is caused by a mutation in the MEOX1 gene. This conditio...

Klippel-Feil syndrome 3, autosomal dominant is defined as any isolated Klippel-Feil syndrome in which a mutation in the GDF3 gene causes the condition...

Kluver-Bucy syndrome is a rare behavioral disorder that occurs when there is damage to the anterior temporal lobes of the brain. This condition is cha...

Kniest dysplasia is a rare bone disorder that affects the development of cartilage and bone. It is caused by issues related to type 2 collagen, a prot...

Knobloch syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Knobloch syndrome 1 is a rare disorder that has been recognized by several names, including KNO1, Knobloch-Layer syndrome, and retinal detachment-occi...