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Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Autosomal Dominant Disorder … Autosomal dominance is a pattern of inheritance … the mutated gene (from one parent) is enough to cause the disorder. A child of a person affected by an autosomal … of a dominant allele. By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… ​ … Methylmalonic Acidemia, Metabolic Disorders, Genetic Disorder, Inherited Disorder, Family Health History, Ancestry, Genetic Disease, …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels of multiple … antibody syndrome and sometimes Hughes syndrome, is a disorder characterized by elevated levels of multiple … APS. If the individual has no known underlying autoimmune disorder, the person is said to have primary APS. If the …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … Hereditary, X Chromosome, Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic … of the X chromosome). … Fragile X syndrome is a hereditary disorder affecting mostly males. … Educational Resources …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… severity of the individual symptoms and include autistic disorder (sometimes called classical autism), Asperger's … become the most commonly diagnosed childhood developmental disorder. According to the Centers for Disease Control … Of children being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism … Autism is a developmental brain disorder characterized by impaired social interactions, … Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder … Autism is a condition related to brain development … and to varying degrees. … Autism is a developmental brain disorder characterized by impaired social interactions, …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… as well as other birth defects. Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the … have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of … are helpful.  … The prognosis for individuals with the disorder depends on the severity of the brain and facial …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Sequencing … Related Content … NIH team discovers genetic disorder causing strokes and vascular inflammation in …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … … Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … are so mild that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 …