Monoamine Oxidase A Deficiency
Monoamine oxidase A deficiency is a very rare genetic condition that mostly affects boys and men. People with this condition have lower activity of an enzyme...
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Monoamine oxidase A deficiency is a very rare genetic condition that mostly affects boys and men. People with this condition have lower activity of an enzyme...
X-Linked Recessive Brunner Syndrome is a very rare genetic condition. It mostly affects boys and men. It happens when a gene on the X chromosome called...
Sudden unexplained nocturnal death syndrome (SUNDS) is a sudden death that happens during sleep in people who seemed healthy and whose autopsy shows no clear cause....
Sudden unexplained death syndrome is also written as SUDS or SUDY (sudden unexplained death in the young). When the death happens during sleep it is often...
“X-linked mental retardation, Reish type” is an old name for a rare, inherited condition first described by Dr. Reish and colleagues. Today it is usually grouped...
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome this triad sits on the spectrum of NKX2-1–related disorders, sometimes nicknamed brain–lung–thyroid (BLT) syndrome. The single, central...
Brain malformation–congenital heart disease–postaxial polydactyly syndrome (also known as Goossens-Devriendt syndrome) is a very rare genetic condition. A baby is born with three main problems: (1) a...
Brachyolmia, Maroteaux type—also called brachyolmia type 2 (BCYM2)—is a rare, inherited bone disorder. It mainly affects the spine. Children typically look short in the trunk (upper...
Preaxial Brachydactyly with Hallux Varus and Thumb Abduction means the short bones are on the “preaxial” side of the limb. This is the thumb side in...
Brachydactyly-preaxial hallux varus syndrome is a very rare, inherited hand–foot difference. Brachydactyly means some digits are short. Preaxial means the problem is on the thumb side...
Brachydactyly-nystagmus-cerebellar ataxia syndrome is a very rare congenital condition where a person is born with short fingers or toes (brachydactyly), involuntary eye movements (nystagmus), and poor...
Congenital hypomyelination neuropathy with arthrogryposis is a rare nerve disease that starts before birth. “Congenital” means present at birth. “Hypomyelination” means the myelin coat (the insulation...