Rare disease

3-M syndrome adult-onset basal ganglia disease Hereditary sensory and autonomic neuropathy type I multiple endocrine neoplasia type 1 systemic primary carnitine deficiency infantile-onset ascending hereditary spastic paralysis hereditary spastic paraplegia 7 carcinoid syndrome achondroplasia X-linked myopathy with excessive autophagy Larsen syndrome CHILD syndrome MASS syndrome muscle-eye-brain disease brittle cornea syndrome Baller-Gerold syndrome Bruck syndrome Meckel syndrome type 7 Melnick–Needles syndrome deafness dystonia syndrome Timothy syndrome Troyer syndrome solitary median maxillary central incisor syndrome occipital horn syndrome Bare lymphocyte syndrome hand-foot-genital syndrome Adams-Oliver syndrome endodermal sinus tumor Malignant Migrating Partial Seizures in Infancy Isolated atrial amyloidosis double outlet right ventricle beta thalassemia thoracic aortic aneurysm ear canal atresia optic atrophy congenital adrenal hyperplasia growth hormone deficiency Ullrich congenital muscular dystrophy polydactyly Caffey disease X-linked ichthyosis lamellar ichthyosis early infantile epileptic encephalopathy 9 trisomy 9 Townes-Brocks syndrome ataxia telangiectasia atrioventricular septal defect STAR syndrome Lucey–Driscoll syndrome intestinal pseudo-obstruction