Rare disease

Gordon syndrome generalized epilepsy with febrile seizures plus McGillivray syndrome Johanson-Blizzard syndrome intestinal hypomagnesemia 1 Myhre syndrome 22q11.2 distal deletion syndrome cortisone reductase deficiency 1 creatine transporter deficiency peeling skin syndrome Singleton Merten syndrome Hereditary neuralgic amyotrophy Pretzel syndrome Nance-Horan syndrome Ogden syndrome glucocorticoid-remediable aldosteronism Knobloch syndrome Kindler syndrome sick sinus syndrome inherited metabolic disorder transposition of great vessels Sotos syndrome Klippel-Feil syndrome congenital muscular dystrophy type 1C LEOPARD syndrome Gordon-Holmes syndrome melanoma Morning glory disc anomaly Leber congenital amaurosis Leigh disease Holt-Oram syndrome Liddle syndrome hepatic vein thrombosis rickets head and neck squamous cell carcinoma familial cold urticaria inclusion body myositis sickle-cell disease LADD syndrome occult macular dystrophy Bowen-Conradi syndrome cerebral folate receptor alpha deficiency Matthew-Wood syndrome Perrault syndrome infantile cerebellar-retinal degeneration IMAGe syndrome tritanopia juvenile spinal muscular atrophy multiple intestinal atresia Pick disease