Cernunnos deficiency is a very rare inherited disease of the immune system and DNA repair system. In this condition, a gene called NHEJ1 (also called Cernunnos ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Cernunnos-XLF deficiency is a very rare inherited disease that affects the immune system and brain growth. It happens when there are harmful changes ...
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease usually means a group of rare brain disorders where the white matter (the “wiring” of the brain) ...
Hereditary multi-infarct dementia is a rare brain disease that runs strongly in families. It happens when many tiny strokes (small areas of blocked blood flow ...
CADASIL syndrome means Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. It is a rare, inherited disease of the small ...
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 is usually called CADASIL type 1. It is a rare, inherited ...
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 is usually called CADASIL type 1. It is a rare, inherited ...
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (also called cerebellar hypoplasia–tapetoretinal degeneration syndrome) is a very ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Cerebellar hypoplasia–tapetoretinal degeneration syndrome is a very rare condition where two main body parts are affected from early life: the cerebellum (a ...
Non-progressive cerebellar ataxia with intellectual disability is a rare genetic brain condition. It mainly affects the cerebellum, the part of the brain that ...
CAMTA1-related disorder is a rare genetic (inherited) brain condition caused by a harmful change (pathogenic variant) in the CAMTA1 gene, which is active in ...
Cerebellar dysfunction with variable cognitive and behavioral abnormalities is a brain condition where the cerebellum (the “coordination center” at the back of ...
Gordon-Holmes syndrome is a rare inherited condition where two big problems happen together: (1) the brain’s balance center (the cerebellum) slowly stops ...
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare brain and nerve disease that slowly gets worse over many ...
Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome) is a very rare inherited immune system disease. It affects how the body’s ...
Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 is better known as ICF syndrome (Immunodeficiency–Centromeric ...
Centromeric instability, immunodeficiency syndrome is a very rare inherited disease where a child’s chromosomes (especially numbers 1, 9 and 16) are unstable ...
Centromeric instability of chromosomes 1, 9 and 16 with immunodeficiency is a very rare inherited disease of the immune system. Doctors usually call it ICF ...
Central polydactyly of fingers is a birth difference where a baby is born with an extra finger (or part of a finger) in the middle of the hand, usually near ...
Yoshimura–Takeshita syndrome is an extremely rare genetic condition that was first described in children and is also listed as central nervous system ...
