is a severe lysosomal storage disorder causing early organ and vision problems.

is a genetic disorder causing anemia, immune deficiency, fevers, and developmental delay.

is a benign birthmark of excess smooth muscle in the skin.

is a rare inherited disorder causing severe watery diarrhea and salt loss.

is a nonprogressive retinal disorder causing night blindness from birth.

is an inherited eye condition causing lifelong poor night vision.

is an inherited eye disorder causing lifelong night vision problems.

is an inherited, nonprogressive retinal disorder causing lifelong night blindness from birth.

is a genetic eye disorder causing lifelong night blindness without progression.

causes lifelong, nonprogressive night vision loss from birth, with possible nearsightedness.

is a genetic, nonprogressive retinal disorder causing night blindness from birth.

is a nonprogressive genetic eye condition present from birth causing night blindness.

is an inherited, nonprogressive retinal disorder causing lifelong night blindness.

is an inherited eye condition causing lifelong poor night vision.

is a lifelong, nonprogressive retinal disorder causing night blindness, usually inherited dominantly.

is a genetic eye disorder causing lifelong night vision problems (nyctalopia).

is a birth defect causing inferior vena cava narrowing and impaired circulation.

is a rare genetic eye disease causing cloudy corneas and blurred vision.

is a birth-present muscle disorder causing weakness and low tone (hypotonia).

is an airway narrowing below the vocal cords present at birth.

is an inherited enzyme disorder causing sugar/starch intolerance, diarrhea, bloating, abdominal pain.

is a rare heart defect with membrane above mitral valve, obstructing flow.

is a birth condition where eyelid lining sticks to the eyeball.

is a genetic disorder causing symmetric circumferential skin creases; sometimes developmental differences.