is a brain disorder that slowly destroys memory, thinking, daily function.

is a genetic skeletal condition causing disproportionate short stature and bone differences.

is a developmental condition, varying widely, affecting communication, social interaction, and behavior.

is an abnormal brain or spinal cord blood vessel cluster causing bleeding.

is a rare inherited disorder causing lipid buildup in organs and vessels.

Azoospermia is absence of sperm in semen, causing male infertility.

is an inherited disorder that impairs biotin recycling, treatable with lifelong supplements.

is a rare genetic epilepsy causing infant-onset, hard-to-control seizures and developmental delays.

is an inherited heart rhythm disorder causing dangerous abnormal rhythms (arrhythmias).

is a rare inherited disease causing bone marrow failure and cancers.

is a genetic condition causing weak muscles, insatiable hunger, and developmental delays.

is a genetic disease causing thick mucus, lung infections, and digestive problems.

is an allergic skin reaction to this chemical, causing itchy rash.

is an allergic skin rash from hair dye chemical exposure (PPD).

is a rare chromosome 10 microdeletion causing variable developmental and health problems.

is a chromosome 10 duplication with widely variable developmental and physical differences.

is a chromosomal microduplication causing variable developmental, speech, and learning differences.

is a rare chromosomal microdeletion with developmental delays and variable features.

is a rare chromosomal deletion linked to developmental and speech delays.

is a chromosome 12q14 deletion syndrome causing short stature and developmental delays.

is a rare chromosome deletion condition causing developmental and health differences.

is a rare chromosome deletion causing developmental delays and variable features.

is a rare chromosome 14 deletion causing developmental and learning challenges.

is a chromosome duplication causing variable developmental, learning, speech, and behavioral challenges.