Complex Lethal Osteochondrodysplasia
Complex lethal osteochondrodysplasia is a very rare, inherited bone and cartilage disorder that starts before birth and is usually fatal for the fetus or newborn baby....
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Complex lethal osteochondrodysplasia is a very rare, inherited bone and cartilage disorder that starts before birth and is usually fatal for the fetus or newborn baby....
TUBB2B complex cortical dysplasia with other brain malformations (often shortened to CDCBM7) is a very rare brain development disease that starts before birth. [1] In this...
Complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B is a very rare genetic brain disorder. In this condition, the outer layer of...
Complex cortical dysplasia with other brain malformations 7 (CDCBM7) is a rare brain development disorder. In this condition, the outer layer of the brain (the cerebral...
Complex cortical dysplasia with other brain malformations type 1 is a very rare brain problem that starts before birth. In this condition, brain cells do not...
Complex cortical dysplasia with other brain malformations caused by mutation in TUBB3 is a rare genetic brain disorder. In this condition, the outer layer of the...
Complex cortical dysplasia with other brain malformations 1 (often shortened to CDCBM1) is a very rare genetic brain disease. In this condition, the outer layer of...
Qrsl1-related combined oxidative phosphorylation defect is a very rare inherited disease that affects how the tiny “power stations” in our cells, called mitochondria, make energy. It...
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect is a very rare, serious genetic disease that affects the mitochondria, which are the “power stations” inside...
Combined oxidative phosphorylation deficiency 40 (short name: COXPD40) is a very rare genetic disease that affects the mitochondria, the tiny “power stations” inside almost every cell....
Syndromic sensorineural hearing loss due to combined oxidative phosphorylation defect (COXPD) means that a child or adult has permanent inner-ear (sensorineural) hearing loss as part of...
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (COXPD) is a very rare genetic mitochondrial disease. In this condition, tiny “power stations” inside cells (mitochondria)...