Disease Directory

De Sanctis-Cacchione syndrome is a rare multisystem condition that primarily affects the skin and nervous system. It is characterized by features of x...

De la Chapelle dysplasia is a condition about which very little detailed information is currently available. The underlying biological mechanisms rema...

Deaf blind hypopigmentation syndrome, Yemenite type is an exceedingly rare inherited condition that primarily affects the skin, eyes, and hearing. The...

Deafness dystonia syndrome is an X-linked recessive neurodegenerative condition that primarily affects males, with clinical manifestations beginning i...

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is a congenital genetic condition that primarily affects the development...

Deafness, Y-linked 2 is a condition that primarily affects hearing and is linked to genetic alterations in the TBL1Y gene. Because the condition is Y-...

Deafness, aminoglycoside-induced is a condition characterized by hearing loss that occurs following exposure to specific antibiotics known as aminogly...

Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 is a condition that primarily affects hearing and dental development. It is associat...

Deafness, congenital, with total albinism is a condition in which individuals are born with significant hearing impairment together with a complete la...

Deafness-craniofacial syndrome is a condition characterized by congenital sensorineural hearing loss and distinct facial features such as facial asymm...

Deafness-ear malformation-facial palsy syndrome is a very rare condition that affects the ears and facial nerves, leading to profound conductive heari...

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disorder that affects multiple organ systems, including the nervous...

Deafness-epiphyseal dysplasia-short stature syndrome is a very rare condition that affects the skeletal system, hearing, and developmental progress. I...

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is a very rare condition, affecting fewer than 1 in 1,000,000 people, that pr...

Deafness-hypogonadism syndrome is a very rare condition that is characterized by congenital mixed hearing loss, hypogonadism, and abnormal behavior. I...

Deafness-infertility syndrome (DIS) is a very rare condition that affects both the auditory system and male reproductive function. It is characterized...

Deafness-intellectual disability, Martin-Probst type syndrome is a complex condition affecting multiple systems, with a particular impact on hearing a...

Deafness-lymphedema-leukemia syndrome is a very rare syndromic genetic disorder that primarily affects the lymphatic and hematologic systems, as well...

Deafness-oligodontia syndrome is an ultra-rare condition characterized primarily by sensorineural hearing loss and missing teeth (oligodontia/hypodont...

Deafness-small bowel diverticulosis-neuropathy syndrome is a complex condition primarily affecting the auditory, neurological, and gastrointestinal sy...