Disease Directory

Joubert syndrome with Jeune asphyxiating thoracic dystrophy is an extremely rare genetic bone disorder. It features the classic signs of Joubert syndr...

Joubert syndrome with ocular defect is a subtype of Joubert syndrome and related disorders. It is defined by the neurological features seen in Joubert...

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders that affects the brain, kidneys, and eyes. It is a...

Joubert syndrome with renal defect is a rare subtype within the spectrum of Joubert syndrome and related disorders (JSRD). People with this condition...

Juberg-Hayward syndrome is a complex condition that involves multiple body systems. It is a polymalformative syndrome, meaning that people with this c...

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

KAT6B-related multiple congenital anomalies syndrome, also known as KAT6B-related disorder, is a rare condition that is recognized in certain rare dis...

KBG syndrome is an inherited developmental condition that affects multiple body systems, especially the skeleton, teeth, and nervous system. It result...

KCNH1 associated disorder is a neurodevelopmental condition caused by mutations in the KCNH1 gene. People with this condition can experience a range o...

KCNV2-related retinopathy is a condition that affects the retina, the light-sensitive tissue at the back of the eye. It is caused by variants in the K...

Information about overview is currently limited for this condition.

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder that affects the skin, eyes, and ears. Pe...

KIF7-related ciliopathy is a spectrum of ciliopathy disorders that are passed down in an autosomal recessive pattern. This condition covers several di...

KIZ-related retinopathy is a type of retinal disease caused by changes in the KIZ gene. The condition affects the retina, an important part of the eye...

Information about overview is currently limited for this condition.

Information about overview is currently limited for this condition.

KLHL9-related early-onset distal myopathy is a rare genetic condition that affects the muscles, particularly those in the distal parts of the limbs. I...

Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by distinct facial features, skeletal anomalies, mild to moderate in...

Kabuki syndrome 1 is a multisystem disorder that involves a range of craniofacial, skeletal, renal, and neurological features. It is caused by pathoge...

Kabuki syndrome 2 is an inherited condition that impacts multiple aspects of development, manifesting in distinctive facial features and growth challe...