Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the arms and legs. Doctors call this ...
Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 is a rare inherited nerve disease. It mainly damages the long “wires” of the nerves, called axons, that carry signals to and from the ...
Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a rare inherited nerve disorder where the long nerves to the arms, legs, breathing muscles, and voice box slowly become damaged. It ...
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2C (often shortened to CMT2C) is a rare inherited nerve disease. It mainly damages the long “wires” (axons) of the peripheral nerves, which ...
Charcot-Marie-Tooth disease (CMT) is a group of inherited nerve diseases that slowly damage the “peripheral nerves.” These are the nerves that carry messages from the brain and spinal cord to the ...
Char syndrome is a very rare genetic condition. It mainly affects the face, the heart, and the hands, especially the little fingers. Doctors describe a “triad” in this syndrome: a special facial ...
SCN9A-related congenital insensitivity to pain is a very rare genetic condition in which a person is born unable to feel physical pain because of harmful changes (mutations) in a gene called SCN9A. ...
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, is a very rare genetic condition. A child with this condition is born almost completely unable to feel physical pain. ...
Cervical hypertrichosis-peripheral neuropathy syndrome is a very rare genetic disease. In this condition, a person is born with a thick patch of dark hair on the front of the neck (anterior cervical ...
Late-onset infantile neuronal ceroid lipofuscinosis type 6 is a very rare genetic brain disease that belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs), also known as Batten ...
Autosomal dominant neuronal ceroid lipofuscinosis 4B (often shortened to CLN4B) is a very rare brain and nerve disease that slowly gets worse over time. It belongs to a family of conditions called ...
Autosomal dominant Kufs disease is a rare brain disease that slowly gets worse over many years. It belongs to a group of conditions called neuronal ceroid lipofuscinoses (NCLs), also known as Batten ...
Combined immunodeficiency–microcephaly–growth retardation–sensitivity to ionising radiation syndrome is a very rare inherited immune system disease. Doctors usually call it Cernunnos-XLF deficiency ...
Cernunnos deficiency is a very rare inherited disease of the immune system and DNA repair system. In this condition, a gene called NHEJ1 (also called Cernunnos or XLF) does not work properly. This ...
Cernunnos-XLF deficiency is a very rare inherited disease that affects the immune system and brain growth. It happens when there are harmful changes (mutations) in a gene called NHEJ1, which makes a ...
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease usually means a group of rare brain disorders where the white matter (the “wiring” of the brain) does not form normal myelin. Myelin is the ...
Hereditary multi-infarct dementia is a rare brain disease that runs strongly in families. It happens when many tiny strokes (small areas of blocked blood flow in the brain) occur over many years and ...
CADASIL syndrome means Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. It is a rare, inherited disease of the small blood vessels in the brain. It causes ...
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 is usually called CADASIL type 1. It is a rare, inherited disease that damages the tiny blood vessels ...
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 is usually called CADASIL type 1. It is a rare, inherited disease of the small blood vessels in ...
