is a rare inherited disorder causing childhood neurodegeneration, seizures, and blindness.

is a rare inherited neurodegenerative disease with seizures and cognitive decline.

is a rare, progressive neurodegenerative disorder (neuronal ceroid lipofuscinosis) causing seizures.

is a rare lysosomal disorder causing progressive childhood neurodegeneration and vision loss.

is a rare inherited lysosomal disorder causing progressive seizures, vision loss, neurodegeneration.

is a rare inherited neurodegenerative disorder causing seizures, vision loss, regression.

is a rare inherited childhood-onset neurodegenerative disorder causing seizures and vision loss.

is a rare inherited neurodegenerative disorder with progressive vision loss, seizures, decline.

is a rare, severe birth defect exposing bladder and intestines at birth.

is a rare anal canal cancer arising at the dentate line.

is a bile duct fluke infection from eating raw freshwater fish.

is a rare neural tube defect, often fatal, affecting head and spine.

is a birth defect involving skin-covered spinal cord malformations; severity varies.

is a bacterial colon infection, often after antibiotics, causing severe diarrhea.

is a rare genetic disorder affecting nails, hair, and thickened palms/soles.

is a rare genetic skeletal disorder with cloverleaf skull and narrow chest.

is a rare genetic disorder causing cloverleaf skull and multiple anomalies.

is a rare genetic condition causing body overgrowth and blood vessel abnormalities.

is a birth defect causing one or both feet to turn inward.

is a rare, fast-growing childhood brain tumor defined by FOXR2 activation.

is a genetic disorder from CNTNAP2 changes causing seizures, developmental delays.

is an allergic reaction to co-trimoxazole, causing rashes, swelling, breathing problems.

is a rare genetic disorder causing brain iron buildup and movement problems.

is a rare childhood eye disorder causing retinal leaks and vision loss.