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A metabolic disorder leading to an inability to metabolize phenylalanine, which can result in intellectual disability. Autosomal recessive inheritance.

Characterized by intellectual disability and distinctive facial features, caused by a trisomy of chromosome 21.

A group of hereditary disorders that damage the nerves in the arms and legs (peripheral neuropathy). Inheritance can be autosomal dominant, autosomal recessive, or X-linked.

This disorder causes muscle degeneration and weakness due to a mutation in the dystrophin gene. Inherited as an X-linked recessive trait.

An autosomal dominant disorder affecting the connective tissue, resulting in long limbs, joint laxity, and cardiovascular abnormalities.

Males with this condition have an extra X chromosome, leading to infertility and other physical and cognitive abnormalities.

A form of dwarfism caused by mutations in the FGFR3 gene, affecting bone growth. Inherited as an autosomal dominant trait.

A neurological and developmental disorder that primarily affects girls, leading to severe cognitive and physical disability. Caused by mutations in the MECP2 gene.

A disorder impairing the blood's ability to clot, leading to excessive bleeding. Usually inherited as an X-linked recessive trait.

This disorder affects the respiratory and digestive systems, characterized by thick mucus production. Inherited as an autosomal recessive trait.

A fatal disorder that progressively destroys nerve cells in the brain and spinal cord. Inherited as an autosomal recessive trait.

This blood disorder leads to misshapen red blood cells, causing anemia and pain. Inherited as an autosomal recessive trait.

Affecting females, characterized by the absence of all or part of a second sex chromosome. Leads to developmental abnormalities.

A condition characterized by the growth of numerous cysts in the kidneys. It can lead to kidney failure. Autosomal dominant inheritance is most common.

A genetic disorder causing obesity, intellectual disability, and shortness in height due to loss of function of part of chromosome 15 inherited from the father.

Marked by severe intellectual and developmental disability, sleep disturbances, seizures, and a happy demeanor. Caused by loss of function of part of chromosome 15 inherited from the mother.

A rare genetic disorder causing copper accumulation in the body, leading to liver and neurological problems. Autosomal recessive inheritance.

A genetic condition causing intellectual disability, behavioral and learning challenges, and various physical characteristics. Caused by a mutation in the FMR1 gene.

A neurodegenerative disorder that causes motor dysfunction and cognitive decline. Inherited as an autosomal dominant trait.