causes congenital limited eye movements, droopy eyelids (ptosis), and misalignment.

is a rare, nonprogressive eye movement disorder causing droopy eyelids (ptosis).

is a rare congenital eye disorder causing restricted gaze and drooping eyelids.

is a rare genetic disorder causing congenital eye movement restriction and ptosis.

is a rare inherited disorder causing lifelong muscle stiffness and limited movement.

is a rare genetic disorder causing excessive body hair from birth.

is a rare genetic disorder causing near-total body fat loss from birth.

is a rare inherited disorder causing almost no body fat from birth.

is a rare inherited disorder causing near-total body fat loss.

is a rare genetic disorder causing near-total body fat loss from birth.

is a rare inherited disorder causing near-total fat loss and metabolic complications.

is a knee flexion contracture present at birth, limiting extension and movement.

is present at birth, causing backward knee bend (hyperextension) and instability.

is a rare heart defect causing a left ventricle-to-right atrium shunt.

is a rare eye condition present at birth that damages vision.

is a genetic disorder causing excess insulin and recurrent low blood sugar.

is a noncancerous (benign) gum tumor in newborns present at birth.

is a heart rhythm disorder present at birth, slowing electrical signals.

is a genetic syndrome causing congenital heart defects, round face, developmental delays.

is a rare genetic condition affecting heart formation, facial features, and learning.

is a birth defect affecting the heart’s structure and blood flow.

is a noncancerous blood vessel tumor present and fully formed at birth.

is an inherited blood disorder causing premature red blood cell destruction.

is a rare inherited eye disorder that causes cloudy corneas from birth.