Contiguous ABCD1–DXS1357E deletion syndrome (CADDS) is a very rare X-linked genetic condition in which a small piece of the X chromosome is missing at the band ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
CADDS stands for Contiguous ABCD1/DXS1357E deletion syndrome. It is a very rare, inherited condition caused by losing (deleting) two neighboring genes on the X ...
C1q nephropathy is a rare kidney disease. It affects the filters of the kidney called glomeruli. In this disease, the body’s immune system leaves a protein ...
C1q deficiency is a very rare inherited immune problem where the body makes too little—or none—of a protein called C1q. C1q is the “starter” of the classical ...
HIKESHI-related hypomyelinating leukodystrophy is a very rare, inherited brain white-matter disease. It happens when both copies of a gene called HIKESHI do ...
C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy is a rare genetic brain white-matter disease. “Hypomyelinating” means the brain does ...
C11orf73-related autosomal recessive hypomyelinating leukodystrophy is a rare brain white-matter disease that starts in infancy. In this condition, the fatty ...
Trigonocephaly C syndrome (often shortened to C syndrome or Opitz trigonocephaly syndrome / OTCS) is an ultra-rare genetic condition. The key sign is ...
Opitz trigonocephaly C syndrome is an ultra-rare genetic condition. Babies are born with a triangular-shaped forehead because the metopic suture (the seam in ...
Opitz C trigonocephaly, also called C syndrome or Opitz trigonocephaly syndrome, is a very rare genetic condition. The front seam of the skull (the metopic ...
C syndrome is also known as Cronkhite–Canada syndrome is a rare disease of the gut in which many non-cancerous polyps grow throughout the stomach and ...
