PNKP oculomotor apraxia is a rare, inherited brain and nerve disorder. It mainly affects how the eyes start a quick movement called a “saccade.” In daily life, ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Ataxia-oculomotor apraxia type 4 (AOA4) is a rare, inherited brain and nerve disorder. It mainly harms the cerebellum (the balance and coordination center) and ...
Poretti-Boltshauser syndrome (PBS) is a rare, autosomal recessive neuro-ophthalmologic disorder caused by pathogenic variants in the LAMA1 gene, which encodes ...
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts syndrome (AIOCC) is a rare, inherited brain condition. It mainly affects the cerebellum, the ...
Congenital intrauterine infection-like syndrome is a term doctors used when a baby looks as if they were infected in the womb (like TORCH infections such as ...
Reardon–Baraitser syndrome, also called pseudo-TORCH syndrome or congenital intrauterine infection-like syndrome is a very rare, inherited brain-development ...
Ataxia–hearing loss–intellectual disability syndrome is a very rare genetic neurodevelopmental disorder. Children typically have global developmental delay and ...
Ataxia–Deafness–Intellectual Disability syndrome (sometimes called Ataxia–deafness–mental retardation syndrome in older papers) is a very rare genetic ...
Feeding difficulties means someone (most often an infant or child, but sometimes an adult) has ongoing problems with eating or drinking enough, or eating ...
Severe feeding difficulties – failure to thrive – microcephaly due to ASXL3 deficiency (Bainbridge-Ropers/ASXL3-related disorder) is a rare genetic ...
Bainbridge-Ropers syndrome (BRS) is a rare genetic condition that affects how a child develops from birth onward. It mainly causes developmental delay or ...
ASXL3-Related Disorder is a rare genetic condition that affects brain and body development. Most children have delayed milestones, learning disability (often ...
Astroblastoma is a very rare brain tumor. It grows from glial cells (the support cells of the brain). It is usually found in the cerebral hemispheres (the ...
Astley-Kendall dysplasia is a lethal skeletal dysplasia. “Lethal” here means most affected babies die before birth or in the newborn period. It is marked by ...
Aspergillus niger infection means illness in a person caused by the fungus Aspergillus niger. A. niger is a “black mold” that lives widely in the ...
Glycosylasparaginase deficiency is a rare, inherited disease. It belongs to a group called lysosomal storage disorders. Lysosomes are tiny “recycling centers” ...
Aspartylglucosaminidase (AGA) deficiency is a rare, inherited lysosomal storage disorder. The body lacks enough of an enzyme called aspartylglucosaminidase ...
Aspartylglucosaminuria (AGU) is a rare, inherited condition in which a “recycling” enzyme inside cells—aspartylglucosaminidase (AGA)—does not work properly. ...
Intrauterine synechiae means thin bands or sheets of scar tissue that stick parts of the uterine cavity together. These scars form after injury or infection of ...
Intrauterine adhesions (IUA) are bands of scar tissue that form inside the uterus. These bands can make parts of the uterine cavity stick together. When the ...
