is an autosomal recessive connective tissue disorder affecting eyes, ears, joints.

is an inherited (autosomal recessive) disorder causing coordination problems and other features.

is a rare inherited clotting disorder from very low protein C levels.

is a rare inherited connective tissue disorder causing fragile tissues and joints.

is a rare inherited condition causing facial contractures and limb abnormalities.

is a rare inherited disorder causing tightly coiled, fragile scalp hair.

is an autosomal semi-dominant laminopathy causing severe lipodystrophy and metabolic complications.

is a rare autosomal recessive disorder causing progressive leg spasticity and weakness.

is a genetic nerve disorder causing progressive leg stiffness (spasticity) and weakness.

is a rare inherited nerve disorder causing progressive leg stiffness and weakness.

is an inherited nerve disorder causing progressive leg stiffness and weakness.

is an autoimmune disease causing widespread inflammation, organ involvement, and flares.

is a genetic disorder causing low platelets and easy bruising/bleeding.

is a genetic condition with an extra autosome, causing developmental differences.

is when both autosomal copies come from one parent, sometimes causing illness.

is a genetic inner-ear hearing loss with autosomal or mitochondrial inheritance.

is a rare brain disorder causing difficulty identifying or locating body parts.

is bone tissue death from poor blood supply, causing pain and collapse.

is bone tissue death (osteonecrosis) from inherited factors, causing pain and collapse.

is a bird flu virus infecting birds; rare, sometimes severe in humans.

is an eye development disorder affecting the drainage angle, increasing glaucoma risk.

is a rare genetic condition affecting eye development, often causing glaucoma.

is a genetic disorder affecting eye development, teeth, and facial features.

is a rare genetic disorder of eye development, often leading to glaucoma.