Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome

Parents (8)

• 78494001Amelogenesis imperfecta disorder
• 362991006Auditory system hereditary disorder disorder
• 85995004Autosomal recessive hereditary disorder disorder
• 282038006Congenital abnormality of external ear disorder
• 26597004Enamel hypoplasia disorder
• 1362108000Genetic intellectual disability disorder
• 65094009Multiple malformation syndrome with facial defects as major feature disorder
• 237836003Short stature disorder disorder

Children (0)

None (leaf concept).