is a rare inherited disorder affecting how the body uses vitamin B12.

is a rare inherited disorder that prevents proper use of vitamin B12.

is a rare genetic condition causing skull, eyelid, and facial differences.

is a rare inherited disorder causing recurrent fevers and body-wide inflammation.

is a rare genetic metabolic disorder causing fevers, developmental delays, and inflammation.

is a rare genetic disorder affecting energy-making cell structures and development.

is a rare inherited disorder affecting sugar processing and development.

is a rare immune disorder that makes fighting infections difficult.

is a rare inherited immune disorder causing serious, recurrent infections.

is a rare genetic disorder affecting the eyes, brain, and development.

is a rare genetic condition affecting eyelid development and facial features.

is a rare genetic condition affecting skull shape, eyelids, and lip.

is a rare genetic disorder affecting brain development, growth, and learning.

is a rare genetic skeletal disorder causing microcephaly and severe short stature.

is a rare genetic condition causing short stature and small head (microcephaly).

is a rare genetic condition causing very small size and severe microcephaly.

is a rare genetic condition causing very small body and head size.

is a rare genetic syndrome causing severe microcephaly and proportionate growth restriction.

is a rare genetic condition causing very small size and insulin resistance.

is a rare genetic condition causing very small body and head size.

is a rare genetic disorder causing severe growth restriction and microcephaly.

is a rare genetic disorder causing very small body and head size.

is a condition where a baby's head is smaller than expected.

is a rare genetic condition causing a small head and eye problems.