Xia-Gibbs syndrome is a rare genetic condition that affects brain growth and body development. It happens when one copy of a gene called AHDC1 does not work ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
AHDC1-related intellectual disability is a genetic condition that affects how the brain develops and works. It is usually caused by a new (de novo) change in a ...
Dysgnathia complex with agnathia–holoprosencephaly is a very rare birth defect pattern that affects the face and the brain together. “Agnathia” means the lower ...
This is an ultra-rare and typically lethal association of defects—most babies do not survive long after birth. The literature is made up mostly of case reports ...
Agnathia–otocephaly complex is a very rare birth condition where the lower jaw (mandible) is missing or extremely small, and the ears may be fused toward the ...
Andermann syndrome is a rare genetic condition that affects both the brain and the nerves in the body. The main brain change is that the corpus callosum, the ...
Disorder of glycine amidinotransferase (AGAT) activity is a rare, inherited condition where the body cannot make enough creatine, a small energy-carrying ...
Cerebral Creatine Deficiency Syndromes are rare, inherited brain energy disorders in which the brain cannot make, convert, or transport enough creatine into ...
AGAT deficiency is a very rare inherited disease that blocks the first step of the body’s creatine-making pathway. The AGAT enzyme (made by the GATM gene) ...
AGAT deficiency (also called arginine:glycine amidinotransferase deficiency or GATM-related cerebral creatine deficiency). This is a very rare, inherited ...
Bantu siderosis is an iron overload disease seen mostly in parts of sub-Saharan Africa. The body slowly takes in too much iron over many years. Most of the ...
Advanced Sleep Phase Syndrome (also called Advanced Sleep-Wake Phase Disorder) is a body-clock problem where your internal day runs earlier than most people. ...
Wissler–Fanconi syndrome is a very rare inflammatory illness that looks like sepsis at first glance: people develop high, swinging fevers, a repeating rash, ...
Adult-onset Still disease is a rare inflammatory disease of the whole body. It usually starts in young or middle adulthood. The immune system becomes ...
Finkel disease is another name for Finkel-type spinal muscular atrophy (SMAFK). It is a rare, inherited motor-neuron disorder that usually begins in adulthood ...
Adult-onset foveomacular vitelliform dystrophy (AOFVD)—also called adult-onset vitelliform macular dystrophy (AVMD) or adult vitelliform maculopathy—is a rare ...
Adult-onset foveomacular dystrophy is a macular condition that usually starts in adults. It causes a round, slightly raised, yellow “egg-yolk–like” spot in the ...
Adult-onset distal myopathy due to VCP mutation is a rare, inherited muscle disease. It usually starts in mid-life. The first signs are weakness and thinning ...
Adult-onset chronic progressive external ophthalmoplegia is a mitochondrial muscle disease. It mainly affects the muscles that move the eyes and lift the ...
Autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease is a rare, inherited, adult-onset white-matter disease of the brain and spinal cord caused ...
