is a rare genetic condition causing developmental delays and learning difficulties.

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

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

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

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

is a genetic disorder causing developmental delays, facial differences, and heart defects.

is a genetic condition causing developmental delay, facial differences, macrocephaly, hypotonia.

is an inherited nerve disorder causing muscle weakness, numbness, and balance problems.

is a hereditary neuropathy causing distal weakness, sensory loss, foot deformities.

is an autosomal-dominant neuropathy causing distal weakness, sensory loss, foot deformities.

is an inherited peripheral nerve disorder causing limb weakness and sensory loss.

is an inherited nerve disorder causing progressive limb weakness and sensory loss.

is an inherited nerve disorder causing progressive limb weakness and sensory loss.

is a dominantly inherited nerve disorder causing progressive limb weakness and numbness.

is a genetic nerve disorder causing progressive weakness, numbness, and chronic pain.

is an inherited thickening of palms and soles, sometimes painful fissures.

is an autosomal dominant disorder causing isolated lens dislocation (ectopia lentis).

is a rare genetic disorder causing short stature, bone abnormalities, and hypocalcemia.

is a hereditary corneal condition causing recurrent inflammation, pain, and light sensitivity.

is a rare inherited disorder causing rough bumps and scarring hair loss.

is a genetic muscle disease causing progressive shoulder and hip weakness.

is an inherited disorder causing progressive hip and shoulder muscle weakness.

is an inherited muscle disorder causing progressive hip and shoulder weakness.

is a genetic condition causing progressive hip and shoulder muscle weakness.