is an inherited kidney disorder causing severe protein loss in infancy.

is a birth defect of the brain, spinal cord, or nerves.

is a rare inherited early-onset neurodegenerative disorder with seizures, vision loss, regression.

is a rare inherited condition with neutropenia, myelofibrosis, and kidney enlargement.

is present at birth; blocked brain fluid flow increases pressure in ventricles.

is an inherited thyroid hormone deficiency from birth, without enlarged thyroid (goiter).

is a rare inherited disorder causing low thyroid hormone from birth.

is an inherited condition causing low thyroid hormone at birth, without goiter.

is a genetic, present at birth thyroid hormone deficiency without thyroid enlargement.

is a rare inherited lack of thyroid hormone without goiter at birth.

is a rare inherited thyroid hormone deficiency without goiter, starting in infancy.

is a rare inherited thyroid hormone deficiency present at birth, without goiter.

is a condition of involuntary, rhythmic eye movements present from birth.

is a genetic eye condition causing involuntary eye movements from infancy.

causes involuntary eye movements from infancy, often inherited, reducing vision clarity.

is a genetic condition causing involuntary eye movements from infancy, reducing vision.

is an inherited disorder causing involuntary, rhythmic eye movements from infancy.

causes involuntary eye movements from birth, affecting vision; often inherited.

is a genetic eye disorder present from birth, causing involuntary eye movements.

is a condition present at birth affecting eye movement, eyelid, pupil.

is a birth-present optic nerve abnormality that can impair vision.

is a genetic eye condition causing optic nerve cupping and vision problems.

is a rare genetic white matter disease (leukodystrophy) beginning in infancy.

is a rare genetic disorder with brittle bones, small head (microcephaly), cataracts.