is an inherited nerve disorder (neuropathy) causing progressive weakness and numbness.

is an inherited nerve disorder causing myelin loss, weakness, numbness, balance problems.

is a genetic nerve disorder causing sensory loss and autonomic dysfunction.

is a genetic muscle disease causing weakness and protein clumps (hyaline bodies).

is a genetic immune disorder causing elevated immunoglobulin E (IgE), recurrent infections.

is a genetic disorder causing recurrent hypoglycemia from inappropriate insulin secretion.

is a genetic disorder causing recurrent low blood sugar from excess insulin.

is a hereditary condition causing low blood calcium (hypocalcemia), sometimes seizures.

is an inherited disorder causing low blood calcium, tingling, cramps, seizures.

is a genetic disorder causing low blood calcium and low parathyroid hormone.

is an inherited disorder causing reduced sweating, sparse hair, and dental abnormalities.

is a rare genetic disorder causing low phosphate and weak bones.

is an autosomal dominant genetic condition causing developmental delays and intellectual disability.

is an inherited (autosomal dominant) condition causing developmental delays and intellectual disability.

is a genetic condition, autosomal dominant, causing developmental delays and intellectual disability.

is a genetic condition causing developmental delays and variable intellectual disability.

is a genetic condition causing developmental delay, intellectual disability, and speech difficulties.

is an autosomal dominant condition causing developmental delays and intellectual disability.

is a genetic condition causing intellectual disability and developmental delays; autosomal dominant.

is a rare genetic condition causing intellectual disability and developmental delays.

is an autosomal-dominant genetic neurodevelopmental disorder causing intellectual disability and developmental delays.

is an autosomal-dominant genetic condition causing developmental delays and intellectual disability.

is a rare genetic, autosomal dominant disorder affecting development and learning.

is a rare genetic disorder causing developmental delay and intellectual disability.