Hittner-Hirsch-Kreh syndrome is a very rare condition in which a baby is born with three main problems together: very small eyes or eye gaps called coloboma, ...

Hall–Hittner syndrome is another name for the “classic” form of CHARGE syndrome, a rare condition present from birth that affects many parts of the body at the ...

Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome is a rare condition that a baby ...

CHARGE syndrome is a rare genetic condition that is present from birth and affects many parts of the body at the same time. It is called “CHARGE” because each ...

Peroneal muscular atrophy of demyelinating type is a long-term (chronic) nerve disease where the protective covering of certain nerves (called myelin) slowly ...

Inherited dominant hypertrophic neuropathy is a long name for a group of nerve diseases where the covering of the nerves becomes thick and damaged because of a ...

Hereditary motor and sensory neuropathy type 1 (HMSN I) is a genetic disease that slowly damages the peripheral nerves. These nerves carry signals from the ...

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a lifelong, inherited nerve disease that mainly damages the “covering” (myelin) of the long nerves in the arms ...

Charcot-Marie-Tooth disease type I (CMT1) is a group of inherited nerve diseases that damage the myelin, the “insulation” around the peripheral nerves. These ...

PMP2-related hereditary motor and sensory neuropathy type 1 is a rare inherited nerve disease that mainly affects the long nerves in the arms and legs. These ...

PMP2-related Charcot-Marie-Tooth neuropathy type 1 is a very rare inherited nerve disease. It affects the long nerves in the arms and legs. These nerves carry ...

PMP2-related Charcot-Marie-Tooth disease type 1 (often called PMP2-related CMT1 or CMT1G) is a very rare inherited nerve disease. It happens when the PMP2 ...

Charcot-Marie-Tooth disease, demyelinating, type 1G (often written CMT1G) is a rare, inherited nerve disease that slowly damages the long nerves in the arms ...

Charcot–Marie–Tooth neuropathy dominant intermediate A (short name: CMTDIA) is a very rare, inherited nerve disease that damages the long nerves in the arms ...

Charcot-Marie-Tooth disease dominant intermediate II is a rare inherited nerve disease. It damages the peripheral nerves, which are the long nerves that carry ...

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (CMTDIA or DI-CMTA) is a very rare inherited nerve disease. It affects the “peripheral” ...

Charcot-Marie-Tooth disease, axonal, type 2GG (often shortened to CMT2GG) is a very rare, inherited nerve disease that mainly affects the long nerves in the ...

Charcot-Marie-Tooth neuropathy type 2D (CMT2D) is a rare inherited nerve disease that mainly affects the small nerves to the hands and feet. It is an “axonal” ...

ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 is a rare inherited nerve disease. It happens when there is a harmful change (mutation) in ...

ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 (often called CMT2DD) is a very rare inherited nerve disease. It mainly damages the ...