Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities is a neurologic condition that typically presents in childhood with move...

Dystonia, dopa-responsive, with or without hyperphenylalaninemia, is a movement disorder primarily marked by significant motor delays without accompan...

Dystrophic epidermolysis bullosa, nails only is a very rare subtype of dystrophic epidermolysis bullosa characterized by dystrophic or absent nails wi...

Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa that primarily affects the skin, resulting in painf...

Dystrophies primarily involving the retinal pigment epithelium affect a critical layer of cells in the eye that supports vision. The exact biological...

Eales disease is an inflammatory condition affecting the veins of the retina. It is characterized by three stages: vasculitis (inflammation of the blo...

Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy is a disorder t...

Early congenital syphilis is a form of congenital infection that becomes apparent during the first two years of life. This condition arises when an in...

Early-infantile DEE is a neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin at or before 3 months of ag...

Early invasive cervical adenocarcinoma is a type of cancer affecting the cervix that is defined by minimal invasion into the surrounding stromal tissu...

Early-onset anterior polar cataract is a condition characterized by the development of lens opacification affecting the front portion of the lens. Rec...

Early-onset autosomal dominant Alzheimer disease is a progressive form of dementia that primarily affects cognitive functions, such as memory and reas...

Early-onset cerebellar ataxia with retained tendon reflexes, also known as EOCA or Harding ataxia, is a neurological disorder that predominantly affec...

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare neurodevelopmental disorder characterized by challen...

Early-onset familial hypoaldosteronism is a rare condition affecting infants, marked by early onset of vomiting, diarrhea, severe dehydration, and fai...

Early-onset generalized dystonia is a neurological movement disorder that typically presents in childhood and is characterized by widespread involunta...