is a birth defect where eyelids form abnormally, affecting appearance and vision.

is a rare birth condition causing abnormally enlarged bladder and urinary obstruction.

is a rare, usually harmless condition with enlarged kidney collecting areas.

is a rare newborn kidney disease from maternal antibodies to neutral endopeptidase.

is a rare infant kidney tumor, usually benign and cured surgically.

is a rare genetic disorder causing microcephaly, severe encephalopathy, progressive cerebral atrophy.

is a rare, birth-present disorder with abnormally small pupils and light sensitivity.

is a rare birth defect causing an abnormally small stomach.

is a birth defect of the mitral valve, affecting blood flow.

is a birth defect narrowing the mitral valve, impeding blood flow.

is a birth defect of the mitral valve causing leakage or narrowing.

is a congenital muscle disease causing weakness and limited eye movements (ophthalmoplegia).

is a rare inherited muscle disease affecting brain and eyes from birth.

is a group of inherited muscle disorders present at birth, causing weakness.

is an inherited muscle disease from birth, often affecting brain and eyes.

is a rare inherited muscle disease with early weakness and contractures.

is a rare, early-onset muscle disorder causing weakness and motor delays.

is a genetic condition causing early muscle weakness, cataracts, and learning difficulties.

is a genetic disorder with newborn muscle weakness and cerebellar coordination problems.

is a rare inherited muscle disorder causing early weakness and joint hyperlaxity.

is a rare genetic muscle disorder causing early weakness and motor delays.

is a genetic disorder causing early muscle weakness and intellectual disability.

is an inherited disorder causing early muscle weakness, developmental disability, seizures.

is a genetic muscle disease from birth causing weakness; thinking remains normal.