Autosomal recessive Charcot-Marie-Tooth disease with hoarseness is a very rare inherited nerve disease. It mainly damages the long nerves that control movement ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (often shortened to CMT2K) is a rare inherited nerve disease. It mainly damages the long nerves ...
Axonal Charcot-Marie-Tooth disease with pyramidal involvement is a rare inherited nerve disease. In this condition, the long nerves to the feet and hands ...
Autosomal recessive axonal Charcot-Marie-Tooth (CMT) neuropathy with pyramidal features is a rare inherited nerve disease. It mainly damages the long “wires” ...
Autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features is a very rare, inherited nerve disease. It mainly affects the long “wires” of ...
Charcot-Marie-Tooth neuronal type 2F (CMT2F) is a rare inherited nerve disease that mainly damages the long nerves of the arms and legs. These nerves control ...
Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1 is a rare, inherited nerve disease that mainly damages the long nerves in the legs and arms. ...
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 ...
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 ...
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, ...
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” ...
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 ...
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” ...
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 ...
Channelopathy-associated congenital insensitivity to pain, autosomal recessive, is a very rare genetic condition. A child with this condition is born almost ...
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 ...
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 ...
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 ...
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 ...
Combined Immunodeficiency–Microcephaly–Growth Retardation–Sensitivity to Ionising Radiation Syndrome
Combined immunodeficiency–microcephaly–growth retardation–sensitivity to ionising radiation syndrome is a very rare inherited immune system disease. Doctors ...
