Bilateral perisylvian polymicrogyria is a brain development problem that starts before birth. In this condition, the brain area around the Sylvian fissures on ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital axonal neuropathy with encephalopathy is a very rare inherited nerve disease that starts at birth or very soon after birth. “Congenital” means ...
Congenital absence of the optic chiasma, also called congenital achiasma, is a very rare birth problem where the normal “crossing point” of the optic nerves ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital CN VI palsy means a weak or paralyzed sixth cranial nerve (also called the abducens nerve) that is present from birth. This nerve controls the ...
Benign congenital sixth cranial nerve palsy is a problem with the sixth cranial nerve (also called the abducens nerve) that is present from birth and is not ...
Congenital abducens nerve palsy is a rare eye movement problem that is present from birth. In this condition, the sixth cranial nerve (also called the abducens ...
Tubulinopathies are a group of rare brain development disorders that happen when there is a harmful change (mutation) in one of the “tubulin” genes. Tubulin is ...
Complex cortical dysplasia with other brain malformations 7 (CDCBM7) is a rare brain development disorder. In this condition, the outer layer of the brain (the ...
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation”. It can also be grouped under “complex cortical dysplasia with other brain ...
Lissencephaly type 2 without muscular or eye involvement is a very rare brain development problem present from birth. Doctors also call it cobblestone ...
Lissencephaly type 2 is a very rare brain problem that starts before birth. In this condition, the baby’s brain surface does not form normal folds and grooves. ...
Cobblestone lissencephaly is a rare brain malformation where the surface of the brain looks bumpy and uneven, like small stones on a road. In this condition, ...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a long-lasting disease of the peripheral nerves, which are the nerves outside the brain and spinal ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Chronic relapsing polyneuropathy is the older name for a disease that doctors now usually call chronic inflammatory demyelinating polyneuropathy (CIDP). It is ...
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a long-lasting disease where the body’s own immune system attacks the covering of the ...
Neuropathy hereditary motor and sensory type 1C is usually called Charcot–Marie–Tooth disease type 1C (CMT1C). It is a rare, inherited nerve disease that ...
Charcot-Marie-Tooth neuropathy, dominant intermediate B (often shortened to CMTDIB) is a very rare inherited nerve disease that mainly affects the long nerves ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Charcot-Marie-Tooth neuropathy type 2X (often grouped under X-linked Charcot-Marie-Tooth disease, or CMTX) is a rare inherited nerve disease that mainly ...
Hereditary adult-onset painful axonal polyneuropathy is a rare inherited nerve disease. It mainly affects the long nerves in the legs and sometimes the arms. ...
Hereditary adult-onset painful axonal polyneuropathy is a very rare inherited nerve disease. It mainly damages the long “wires” (axons) of the peripheral ...
