is an autosomal recessive telomere disorder with bone marrow failure, mucocutaneous changes.

is an inherited muscle disease with early contractures, weakness, and heart problems.

is an autosomal recessive muscle disorder causing early contractures, weakness, and arrhythmias.

is a rare inherited skin condition causing fragile, blistering skin and scaling.

is a rare inherited condition causing persistent bad breath from systemic sources.

is a rare inherited disorder affecting facial, limb, and genital development.

is a rare genetic brain malformation causing developmental delay and seizures.

is a genetic skin condition causing widespread blistering, scarring, and nail changes.

is a rare autosomal-recessive skin disorder causing widespread blisters, scarring, complications.

is a rare inherited skin disorder causing widespread, friction-induced blistering.

is an autosomal recessive nerve disorder causing progressive weakness and numbness.

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

is a rare inherited muscle disease causing progressive weakness and disability.

is a rare inherited immune disorder causing high IgE, severe infections, eczema.

is a rare inherited disorder causing persistent low blood sugar (hypoglycemia).

causes persistent low blood sugar from excessive insulin release, often in newborns.

is a genetic condition causing reduced sweating, sparse hair, and missing teeth.

is a rare inherited disorder causing low blood phosphate (hypophosphatemia) and rickets.

is a rare inherited disorder causing high calcium levels in infants.

is a rare inherited disorder causing developmental and intellectual disabilities.

is a rare autosomal recessive disorder causing developmental and intellectual disabilities.

is an autosomal recessive neurodevelopmental disorder causing intellectual disability and delays.

is an autosomal recessive condition causing developmental delay and intellectual disability.

is a rare autosomal recessive condition causing developmental delays and intellectual disability.