is a rare genetic condition causing cleft lip/palate and ectodermal abnormalities.

is a genetic syndrome causing cleft lip/palate, intestinal malrotation, and heart defects.

is a congenital split in the mitral valve causing leakage (regurgitation).

is a split in the roof of the mouth present at birth.

is a genetic condition with cleft palate, large ears, small head (microcephaly).

is a rare birth condition with cleft palate and mouth adhesions (synechiae).

is a rare genetic condition causing cleft palate, short stature, spinal abnormalities.

is a genetic disorder with cleft palate, stapes fixation, and missing teeth.

is a genetic condition causing heart, palate, and learning differences (intellectual disability).

is a split in the soft palate affecting feeding and speech.

is a genetic bone disorder causing underdeveloped collarbones and dental abnormalities.

is a genetic skeletal disorder affecting skull, collarbones, and teeth development.

is a rare genetic skeletal disorder causing collarbone and upper-limb shortening.

is an eye surface disease causing corneal clouding from chronic sun exposure.

is a rare, steroid-responsive brainstem inflammation causing walking and eye problems.

is a rare cancer of clitoral tissue, often linked to HPV.

is a rare skull base tumor from embryonic spine tissue.

is a rare skull base bone tumor, slow-growing yet locally aggressive.

is a skull base tumor from meninges, often benign, compressing nearby structures.

is a rare genetic brain disorder causing seizures, vision loss, early regression.

is a rare lysosomal disease causing progressive neurodegeneration, seizures, and vision loss.

is a rare genetic neurodegenerative disorder causing seizures, vision loss, and dementia.

is a rare inherited neurodegenerative disorder causing progressive cognitive and movement decline.

is a rare genetic disorder causing childhood seizures, developmental regression, vision loss.