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- ... is quickly broken down by galactosylceramidase. Under normal conditions, tissues contain very little psychosine. More than 200 GALC gene mutations that cause Krabbe disease have been identified. Krabbe disease is a brain ...
- ... that cause a form of Charcot-Marie-Tooth disease known as type 1B. Charcot-Marie-Tooth syndrome ... and sensory problems characteristic of Charcot-Marie-Tooth disease.Some MPZ gene mutations cause a severe form ...
- ... identified in people with Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to severe intellectual ... cause a small percentage of cases of this condition. Some mutations lead to the production of an ...
- ... have inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). This rare disease causes muscle weakness (myopathy) and can also include ...
- ... have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in ... characteristic of centronuclear myopathy. More About This Health Condition Variants in the TTN gene have been identified ...
- ... and type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). Both types of Waardenburg ... IV also have an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage. Most ...
- ... EDNRB gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another condition called Waardenburg ...
- ... been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic ... becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor ...
- ... been found to cause Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to severe intellectual ... with Rubinstein-Taybi syndrome. Other features of the condition likely result from abnormal development of other systems. ...
- ... the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones ... birth. The TG gene mutations involved in this condition either delete a small segment of the TG ...
