is a group of conditions causing stomach and upper intestine birth defects.

is an inherited condition causing cataracts with other body or developmental features.

is an inherited condition causing hearing loss along with other body features.

is a genetic condition causing strabismus and other health or developmental features.

is an inherited condition causing displaced eye lenses and other body features.

is an inherited condition causing cone-shaped corneas and other body features.

is a group of genetic conditions affecting hair and other body systems.

is an inherited condition causing vision loss with other body features.

is an inherited condition causing farsightedness and other health or developmental features.

is hypothyroidism that occurs alongside other genetic or physical features.

is a genetic eye disorder affecting vision and sometimes other body systems.

is intellectual disability plus other features, often affecting multiple body systems.

is a group of birth defects affecting the intestines and other organs.

is keratoconus that occurs with other medical or genetic conditions.

is a genetic condition affecting tear drainage and other body systems.

is an inherited eye disorder causing central vision loss with other features.

is a genetic condition causing unusually small eyes and other body differences.

is a rare genetic condition causing small eyes and other birth differences.

is a rare genetic condition causing unusually small eyes and other differences.

is a rare inherited disorder with small eyes (microphthalmia) and anomalies.

is a rare genetic condition affecting eye development and sometimes other organs.

is a genetic condition with small rounded eye lenses and other features.

is a rare inherited autoimmune disease caused by ITCH gene deficiency.

is a genetic condition causing abnormal nails along with other body features.