Introduction: Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS). Methods: The proband and her parents were examined thoroughly and obser
SAMS (Symptom Annotation Made Simple) is created for doctors and patients to digitally capture a thorough phenotype and track emerging signs and symptoms and changes thereof over time. Visiting the si
A, complete heterochromia iridis; B, partial or segmental heterochromia iridis; C, brilliant blue iris; Skin, numerous brown freckles on the face, trunk, and limb extremities; W, W index; HL, hearing
