Rare disease

du Pan syndrome Majewski's polydactyly syndrome variegate porphyria Mowat-Wilson syndrome NGLY1-deficiency Stromme syndrome cleft lip-palate-ectodermal dysplasia syndrome Christianson syndrome Distal hereditary motor neuropathy type V Bruton-type agammaglobulinemia dilated cardiomyopathy Hemochromatosis type 4 failure of eruption of teeth Charlevoix-Saguenay spastic ataxia episodic ataxia type 2 familial isolated deficiency of vitamin E Kjer's optic neuropathy alpha thalassemia Distal renal tubular acidosis activated protein C resistance Ring chromosome 14 syndrome Machado-Joseph disease coronary artery dissection Sorsby's fundus dystrophy X-linked dystonia-parkinsonism pyruvate kinase deficiency purine nucleoside phosphorylase deficiency congenital insensitivity to pain MOMO syndrome RIDDLE syndrome branched-chain keto acid dehydrogenase kinase deficiency Schindler disease hemochromatosis type 3 parasitic twin Pierson syndrome isolated growth hormone deficiency neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation 5 hereditary spastic paraplegia 15 hereditary spastic paraplegia 31 hereditary spastic paraplegia 6 X-linked cone-rod dystrophy 1 hemochromatosis type 5 platelet-type bleeding disorder 19 hyperkalemic periodic paralysis bronchiectasis Niemann–Pick disease, SMPD1-associated familial hemiplegic migraine carpal tunnel syndrome tibial muscular dystrophy