is an inherited condition with low platelets (thrombocytopenia) and enlarged platelets.

is a rare inherited immune disorder causing recurrent or severe mycobacterial infections.

is an inherited immune condition causing frequent mycobacterial infections and complications.

is an inherited immune disorder from interferon-gamma receptor issues, causing mycobacterial infections.

is an inherited disorder causing small head size and developmental delays.

is an autosomal dominant muscle disease causing exercise intolerance, weakness, and fatigue.

is a dominantly inherited disorder causing skin webbing (pterygia) and joint contractures.

is an inherited disorder with thick palms/soles and periorificial (around openings) plaques.

is a rare inherited disorder causing recurrent muscle breakdown and dark urine.

is an inherited disorder causing nearsightedness, hearing loss, and short arms (rhizomelia).

is a rare inherited muscle disorder causing progressive weakness from myosin buildup.

is an inherited retinal disorder causing inflammation, abnormal vessels, gradual vision loss.

is an inherited epilepsy causing seizures mainly during sleep.

is a rare inherited epilepsy causing brief seizures during sleep.

is an inherited epilepsy with nocturnal frontal-lobe seizures and arousals.

is an autosomal dominant epilepsy causing nighttime frontal-lobe seizures.

is a rare inherited epilepsy causing seizures during sleep.

is an autosomal dominant epilepsy with sleep-related frontal lobe seizures.

is a genetic disorder causing intellectual disability without other features; dominantly inherited.

is a genetic, autosomal-dominant, progressive sensorineural hearing loss without other symptoms.

is an inherited, autosomal dominant, progressive sensorineural hearing loss without syndromic features.

is an inherited, autosomal dominant hearing loss without other health issues (nonsyndromic).

causes inherited, nonsyndromic inner-ear (sensorineural) hearing loss, often progressive.

is inherited (autosomal dominant) hearing loss without other symptoms, often progressive.