Meacham syndrome
ORPHA:3097Autoimmune polyendocrinopathy type 1
ORPHA:3453Chandler syndrome
ORPHA:98979Childhood disintegrative disorder
ORPHA:168782Mueller-Weiss syndrome
ORPHA:566943Muscle-eye-brain disease
ORPHA:588Postaxial acrofacial dysostosis
ORPHA:246Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
ORPHA:420584Primary progressive aphasia
ORPHA:95432X-linked intellectual disability, Wittwer type
ORPHA:85291