Genetic disease

dwarfism, familial, with muscle spasms Martinez-Frias syndrome CANVAS syndrome Lamb-Shaffer syndrome even-plus syndrome Yao syndrome X-linked intellectual disability-hypotonic face syndrome Triploid syndrome Hairy palms and soles focal epithelial hyperplasia trichotillomania Fabry disease coarctation of the aorta postural orthostatic tachycardia syndrome retinal detachment hip dysplasia histoplasmosis Jumping Frenchmen of Maine macrocephaly Knuckle pads lethal congenital contracture syndrome 1 photic sneeze reflex overgrowth syndrome childhood onset GLUT1 deficiency syndrome 2 Partial monosomy 13q pyruvate carboxylase deficiency disease McCune–Albright syndrome hiatus hernia retinal degeneration associated with rhodopsin mutations Ring 18 Rosenthal–Kloepfer syndrome Rud syndrome Sabinas brittle hair syndrome DNA repair-deficiency disorder genetic predisposition ulnar-mammary syndrome ulnar-mammary syndrome Worth's syndrome Baker's cyst Yunis-Varon syndrome fatal familial insomnia halo nevus Hailey-Hailey disease Wolff-Parkinson-White syndrome Sener syndrome congenital heart disease immunoglobulin A deficiency chylomicron retention disease cryptorchidism gastric mucosal hypertrophy