Cerebro-oculo-facial-lymphatic syndrome (COFLS) is a very rare condition first described in medical journals in which the brain (cerebro-), eyes (oculo-), face ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Baraitser–Winter cerebrofrontofacial syndrome is a rare genetic condition that affects how the face, eyes, brain, and other parts of the body develop before ...
Band heterotopia is a birth-time (congenital) problem in brain development. In early pregnancy, new brain cells (neurons) are supposed to travel outward to ...
Concentric sclerosis is a rare disease where the body’s immune system attacks the white matter (myelin) in the brain in a very special pattern—alternating ...
Concentric demyelination means myelin (the insulation around nerve fibers) is lost in round, ring-like layers. On MRI and under the microscope, you see ...
Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Azorean disease (Machado-Joseph disease/SCA3) is a rare, inherited brain disorder that slowly affects balance, walking, speech, eye movements, and fine hand ...
SYT14-related autosomal recessive syndromic cerebellar ataxia is a rare inherited brain disorder. It mainly affects the cerebellum, the part of the brain that ...
Autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 (SCAR11) is a rare, inherited brain disorder that mainly affects the cerebellum, ...
Psychomotor Delay Syndrome means a child is slower than most children their age to do movement and thinking skills such as rolling, sitting, walking, speaking, ...
Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11) is a very rare genetic brain disorder that mainly damages the cerebellum, the part of the brain that ...
Spinocerebellar ataxia (SCA) is a group of rare, inherited brain disorders. In SCA, parts of the brain that control balance and coordination—especially the ...
Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is a rare, inherited brain disorder that mainly affects the cerebellum—the part that coordinates ...
Autosomal recessive complex spastic paraplegia caused by mutations in CAPN1 is a rare inherited nerve disorder. It mainly makes the legs stiff and tight ...
Microcephalia vera” means “true microcephaly.” Doctors used this older term for babies who are born with a much smaller head because the brain did not grow ...
Introduction Gallbladder cancer is a rare but serious disease that develops when cancerous (malignant) cells form in the tissues of the gallbladder a small ...
Dr Muhammad Zakria
Introduction Liver cancer is one of the most challenging cancers worldwide, known for its aggressive nature and often late diagnosis. ...
Intermediate Charcot–Marie–Tooth disease is a group of inherited nerve disorders that slowly damage the long nerves to the legs and arms. The intermediate form ...
Severe infantile axonal neuropathy with respiratory failure type 1 is a very rare inherited nerve disease that begins in early infancy. It mainly damages the ...
Distal hereditary motor neuronopathy, Harding type VI (often shortened to dHMN VI or HMN VI), is a rare, inherited nerve disease. It mainly damages the motor ...
