is a rare genetic condition affecting development, learning, and physical features.

is a genetic condition causing developmental delays, learning difficulties, and distinctive features.

is a rare genetic condition causing developmental delays and distinctive physical features.

is a rare genetic disorder causing developmental delays and characteristic physical features.

is a rare genetic condition causing developmental delays and characteristic physical features.

is a rare genetic syndrome with developmental delays and fifth-finger underdevelopment.

is a genetic syndrome causing developmental delay, learning challenges, and fifth-nail differences.

is a rare genetic syndrome from SMARCA4 gene changes, causing developmental delay.

is a genetic condition causing developmental delays, distinctive features, nail abnormalities.

is a rare genetic condition causing developmental delay and distinctive physical features.

is a rare genetic condition with developmental delays and underdeveloped fifth fingernails.

is a rare genetic condition causing developmental delays and distinctive features.

is a rare genetic condition causing developmental delays and distinctive physical features.

is a rare inherited disorder causing severe developmental, eye, and skeletal problems.

is a rare inherited disorder of sugar attachment (glycosylation) affecting multiple organs.

is a rare congenital disorder of glycosylation (CDG) affecting multiple systems.

is a rare inherited congenital disorder of glycosylation (CDG) affecting multiple systems.

is a rare inherited condition affecting glycosylation (sugar processing) and multiple organs.

is a rare inherited glycosylation disorder affecting development and multiple organs.

is a rare inherited glycosylation disorder causing multisystem developmental and organ problems.

is a rare inherited glycosylation disorder affecting development and multiple organs.

is a rare autoimmune disease causing eye inflammation and inner ear problems.

is a rare eye condition with iris nodules and secondary glaucoma.

is a condition affecting thinking, memory, attention, and daily functioning.