A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, sin
syndrome d'ataxie-photosensibilité-petite taille
SNOMEDCT-BE (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, sin / 773769008
SNOMEDCT-BE (disorder) / 773769008