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 ...
Progressive cerebellar ataxia with hypogonadism is a very rare genetic brain and hormone disorder. It mainly affects the cerebellum (the part of the brain that ...
Luteinizing hormone-releasing hormone (LHRH) is the older name for gonadotropin-releasing hormone (GnRH). GnRH is made in the hypothalamus (a small control ...
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 hypogonadotropic hypogonadism means two main problems happen together. First, cerebellar ataxia: the cerebellum is the “balance and ...
Cerebellar ataxia–hypogonadism syndrome is a rare, usually inherited condition where a person has cerebellar ataxia (poor balance and poor coordination because ...
Carbohydrate-deficient glycoprotein syndrome type IIo is now usually called Congenital Disorder of Glycosylation, type IIo (CDG-IIo) or CDG2O. It is a rare ...
CCDC115-CDG is a very rare inherited disorder where the body cannot “decorate” many proteins with sugar chains in the normal way (this process is called ...
Noonan syndrome-like disorder without juvenile myelomonocytic leukemia is a rare genetic condition where a person looks and develops in a way that is similar ...
Noonan syndrome is a genetic condition you are born with. It can change how the body grows and how some organs form, especially the heart, the face, the bones, ...
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia (JMML) is a rare inherited condition where a child can look like they have Noonan syndrome ...
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (JMML) is a rare genetic condition that looks like Noonan syndrome and also raises the risk ...
CBL-related disorder is a rare genetic condition caused by a harmful change (pathogenic variant) in the CBL gene. Many people with it look similar to Noonan ...
Cayman cerebellar ataxia (also called cerebellar ataxia, Cayman type) is a rare genetic (inherited) brain condition that usually starts from birth or early ...
Cayman type cerebellar ataxia (often shortened to “Cayman ataxia”) is a rare inherited brain development condition that starts from birth or very early ...
Tracheopulmonary myiasis means fly larvae (maggots) live inside the breathing tubes or lungs. The larvae may be in the trachea (windpipe), bronchi (main ...
Tracheopulmonary myiasis means fly larvae (maggots) live inside the breathing tubes or lungs. The larvae may be in the trachea (windpipe), bronchi (main ...
Intestinal myiasis is a condition where fly larvae (maggots) are inside the stomach or intestines for a short time and may be passed out in stool. Most often, ...