is a rare inherited disorder causing painful light sensitivity and protoporphyrin buildup.

is a rare inherited condition affecting the ear canals, hearing, and face.

is an inherited eye disorder that can cause vision loss.

is an inherited condition causing facial differences, short stature, and learning disability.

is a rare inherited disorder causing poor coordination, balance, and movement problems.

is a rare inherited disorder causing nerve damage and hearing loss.

is an inherited immune disorder causing low infection-fighting antibodies and frequent infections.

is an inherited immune disorder causing infections; high IgM, low other antibodies.

is a rare inherited disorder causing low parathyroid hormone and low calcium.

is a genetic disorder causing low phosphate, weak bones, and dental problems.

is a genetic skin condition causing dry, dark, scaly skin.

is a genetic skin condition causing dry, scaly skin, mainly in males.

is a rare inherited immune disorder that increases risk of severe infections.

is a rare inherited immune disorder causing severe Epstein-Barr infections and cancer.

is a rare inherited disorder affecting the immune system, nerves, and development.

is a rare inherited condition causing developmental delay and intellectual disability.

is a rare inherited condition causing intellectual disability and developmental problems.

is an inherited condition causing learning problems and low growth hormone.

is a rare genetic condition causing intellectual disability, acromegaly, and hyperactivity.

is a rare inherited condition causing learning problems, poor coordination, and apraxia.

is a rare inherited disorder causing learning difficulties, cardiomegaly, and heart failure.

is a rare genetic condition causing intellectual disability and underdeveloped cerebellum.

is a rare inherited condition affecting learning, balance, growth, and bones.

is a rare inherited condition affecting development, learning, facial features, and bones.