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...

Deafness-vitiligo-achalasia syndrome is a complex condition that affects multiple body systems, particularly hearing, skin pigmentation, and gastroint...

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-...

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

de Barsy syndrome is a rare genetic disorder described as having an autosomal recessive pattern, primarily affecting multiple systems including the sk...

Dedifferentiated chondrosarcoma is an aggressive variant of chondrosarcoma that arises in the bones and is characterized by a dual component of low-gr...

Dedifferentiated liposarcoma is a high-grade subtype of soft tissue sarcoma that generally arises from well-differentiated liposarcoma, most often in...

Dedifferentiated solitary fibrous tumor is a type of soft tissue tumor that exhibits an abrupt transition to areas resembling high-grade sarcoma. This...

Deeah syndrome is a multi-system condition characterized by significant developmental challenges, severe global developmental delay, motor delay, and...

Deep seated dermatophytosis is a cutaneous infection marked by a deep folliculitis that primarily affects the legs. It is caused by a dermatophyte fun...

The defect in conserved oligomeric Golgi complex is a condition that appears to impact cellular function, although specific details about its biologic...

Defect in V-ATPase is a condition for which the scientific understanding is still emerging. At this time, the clinical features and underlying biologi...

Defective apolipoprotein b-100 is a condition that appears to affect lipid metabolism, likely influencing how the body processes and transports choles...

Deficiency anemia is a condition in which the body has a lower than normal number of healthy red blood cells, which can affect the delivery of oxygen...

Deficiency in anterior pituitary function - variable immunodeficiency syndrome is a very rare condition that affects hormonal regulation and the immun...

Deficiency of adenosine deaminase 2 is a condition that is defined by an alteration affecting a key enzyme involved in adenosine metabolism. The preci...