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- ... lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from ... lead to hearing problems. More About This Health Condition Mutations in the COL11A2 gene have been identified ...
- ... causes infantile cortical hyperostosis, commonly known as Caffey disease. The signs and symptoms of Caffey disease are usually apparent by the time an infant ...
- ... found to cause giant congenital melanocytic nevus. This condition is characterized by a large, noncancerous patch of ... melanoma. The NRAS gene mutations that cause this condition are somatic, meaning that they occur during a ...
- ... cause distal hereditary motor neuropathy, type V. This condition affects nerve cells (neurons) in the spinal cord. ... the hands and feet. More About This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth ...
- ... Berardinelli-Seip congenital lipodystrophy) type 2 . This rare condition is characterized by an almost total absence of ... bloodstream (hypertriglyceridemia) and diabetes mellitus, which is a condition in which glucose levels can become dangerously high. ...
- ... specific mental and emotional problems characteristic of this condition. People with 22q11.2 deletion syndrome are much more likely than people without the condition to develop schizophrenia, depression, anxiety, and bipolar disorder. ...
- ... chances of developing heart and blood vessel (cardiovascular) disease. HDL carries cholesterol and phospholipids through the bloodstream ... mutations) in the ABCA1 gene can cause a condition called familial HDL deficiency. People with this condition ...
- ... lungs from developing normally. Most children with this condition are stillborn or die shortly after birth from ... are still under study. More About This Health Condition Variants in the COL11A1 gene account for 10 ...
- ... Hypochondrogenesis was once believed to be a distinct condition but is now considered to be part of the same disease spectrum as achondrogenesis type 2. Most of the ...
- ... mutations in families with late-onset Parkinson's disease (the most common form of the disorder, which ... movement and balance problems characteristic of Parkinson's disease.A mutation that replaces the amino acid arginine ...