is a rare inherited disorder affecting skin color, hair, immunity, and nerves.

is a rare inherited disorder causing silvery hair and serious neurologic problems.

is a rare inherited disorder causing silvery hair and severe immune problems.

is a rare inherited condition causing unusually light skin and silvery hair.

is an inherited brain disorder causing frontotemporal dementia with TDP-43 protein buildup.

is a rare condition where noncancerous teratoma masses grow during treatment.

causes delayed development, low muscle tone, vision problems, and lactic acidosis.

is a condition causing slowed growth from insulin-like growth factor (IGF-I) resistance.

is a rare condition causing slow growth due to low IGF-1 activity.

is a rare genetic disorder causing poor growth, hydrocephalus, and underdeveloped lungs.

is a genetic condition causing growth delay, liver disease, and learning difficulties.

is a rare inherited condition causing short stature despite normal growth hormone.

is a rare genetic condition causing short stature and immune system problems.

is a noncancerous pituitary tumor that makes too much growth hormone.

is a rare pituitary tumor that causes excess growth hormone production.

is a rare syndrome causing slow growth, mild developmental delay, and hepatitis.

is a very rare genetic condition affecting development, speech, learning, and behavior.

is a genetic disorder reducing neurotransmitters, causing movement and developmental problems.

is a rare inherited disorder that disrupts creatine production in the brain.

is a condition associated with PMP22. This condition is also known as acute infective polyneuritis and acute inflammatory demyelinating polyradiculopathy.

is a type of mouth cancer affecting the gums.

is a late-stage syphilis complication causing destructive soft tissue masses.

is a rare genetic condition affecting the hands, feet, and reproductive development.

is a rare ovarian tumor containing both female- and male-type sex cells.