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Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
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.
… Genetic Disorders …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … to find the variants and genes underlying Mendelian disorders. … genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… increased risk of developing Parkinson disease and related disorders. … Genetic Disorders …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play … Deficit Hyperactivity Disorder, ADHD, inherited brain disorders, Phillip Shaw Ph.D., Social and Behavioral Research …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Genetic Disorders …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. …