Disease Directory

Cerebral palsy, spastic quadriplegic, 3 is a neurodevelopmental disorder caused by mutations in the ADD3 gene. It is defined by increased muscle tone,...

Cerebral sarcoidosis is a rare manifestation of sarcoidosis that affects the brain. The exact genetic basis and inheritance pattern for cerebral sarco...

Cerebral sarcoma is a malignant tumor arising in the telencephalon of the brain. As a type of sarcoma, it affects the central nervous system and repre...

Cerebral sclerosis similar to Pelizaeus-Merzbacher disease is an extremely rare condition. Because few cases have been documented, detailed clinical i...

Cerebral sinovenous thrombosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Cerebro-costo-mandibular syndrome (CCMS) is a multisystem developmental condition that primarily affects the face, jaw, ribs, and upper airway. Pathog...

Cerebrofacial arteriovenous metameric syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information i...

Cerebrofacial arteriovenous metameric syndrome type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical inform...

Cerebrofacial arteriovenous metameric syndrome type 3 is an extremely rare condition. Because few cases have been documented, detailed clinical inform...

Cerebrooculofacioskeletal syndrome 1 (COFS 1) is a very rare, multisystem condition that primarily affects the brain, eyes, facial development, and sk...

Cerebrooculofacioskeletal syndrome 2 (COFS2) is a very rare, multisystem genetic condition that affects growth, brain development, vision, hearing, co...

Cerebrooculofacioskeletal syndrome 3 is a congenital condition that affects multiple systems, including the brain, eyes, face, and skeletal structures...

Cerebrooculofacioskeletal syndrome 4 is a very rare, inherited disorder that affects the brain, eyes, face, and skeleton from before birth or early in...

Cerebro-oculo-nasal syndrome is a rare multisystem malformation syndrome characterized by several distinct clinical features. The condition is inherit...

Cerebroretinal microangiopathy with calcifications and cysts 1 is a multisystem condition that primarily affects the brain and the retina, and is asso...

Cerebroretinal microangiopathy with calcifications and cysts 2 is a multisystem disorder that affects the brain, eyes, blood, liver, and gastrointesti...

Cerebroretinal microangiopathy with calcifications and cysts 3 is a multisystem condition that affects the brain, eyes, and other organ systems. It is...

Cerebrotendinous xanthomatosis (CTX) is a disorder of bile acid synthesis that affects multiple systems including the liver, eyes, tendons, and brain....

Ceroid lipofuscinosis, neuronal, 4 (Kufs type) is a neurodegenerative condition characterized by the accumulation of intracellular lipopigments and is...

Ceroid lipofuscinosis, neuronal, 6A (CLN6) is a rare neurodegenerative disorder caused by mutations in the CLN6 gene, inherited in an autosomal recess...