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1 | What is (are) Lynch syndrome ? |
1 | What is (are) lysinuric protein intolerance ? |
1 | What is (are) Mabry syndrome ? |
1 | What is (are) Maffucci syndrome ? |
1 | What is (are) Mainzer-Saldino syndrome ? |
1 | What is (are) Majeed syndrome ? |
1 | What is (are) mal de Meleda ? |
1 | What is (are) malignant hyperthermia ? |
1 | What is (are) malignant migrating partial seizures of infancy ? |
1 | What is (are) malonyl-CoA decarboxylase deficiency ? |
1 | What is (are) mandibuloacral dysplasia ? |
1 | What is (are) mandibulofacial dysostosis with microcephaly ? |
1 | What is (are) Manitoba oculotrichoanal syndrome ? |
1 | What is (are) mannose-binding lectin deficiency ? |
1 | What is (are) maple syrup urine disease ? |
1 | What is (are) Marfan syndrome ? |
1 | What is (are) Marinesco-Sjgren syndrome ? |
1 | What is (are) maternally inherited diabetes and deafness ? |
1 | What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ? |
1 | What is (are) McCune-Albright syndrome ? |
1 | What is (are) McKusick-Kaufman syndrome ? |
1 | What is (are) McLeod neuroacanthocytosis syndrome ? |
1 | What is (are) Meckel syndrome ? |
1 | What is (are) MECP2 duplication syndrome ? |
1 | What is (are) MECP2-related severe neonatal encephalopathy ? |
1 | What is (are) medium-chain acyl-CoA dehydrogenase deficiency ? |
1 | What is (are) medullary cystic kidney disease type 1 ? |
1 | What is (are) Meesmann corneal dystrophy ? |
1 | What is (are) megalencephalic leukoencephalopathy with subcortical cysts ? |
1 | What is (are) megalencephaly-capillary malformation syndrome ? |
1 | What is (are) MEGDEL syndrome ? |
1 | What is (are) Meier-Gorlin syndrome ? |
1 | What is (are) Meige disease ? |
1 | What is (are) Melnick-Needles syndrome ? |
1 | What is (are) Menkes syndrome ? |
1 | What is (are) metachromatic leukodystrophy ? |
1 | What is (are) metatropic dysplasia ? |
1 | What is (are) methemoglobinemia, beta-globin type ? |
1 | What is (are) methylmalonic acidemia ? |
1 | What is (are) methylmalonic acidemia with homocystinuria ? |
1 | What is (are) mevalonate kinase deficiency ? |
1 | What is (are) microcephalic osteodysplastic primordial dwarfism type II ? |
1 | What is (are) microcephaly-capillary malformation syndrome ? |
1 | What is (are) microphthalmia ? |
1 | What is (are) microphthalmia with linear skin defects syndrome ? |
1 | What is (are) microvillus inclusion disease ? |
1 | What is (are) Miller syndrome ? |
1 | What is (are) Miller-Dieker syndrome ? |
1 | What is (are) Milroy disease ? |
1 | What is (are) mitochondrial complex III deficiency ? |
1 | What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? |
1 | What is (are) mitochondrial membrane protein-associated neurodegeneration ? |
1 | What is (are) mitochondrial neurogastrointestinal encephalopathy disease ? |
1 | What is (are) mitochondrial trifunctional protein deficiency ? |
1 | What is (are) Miyoshi myopathy ? |
1 | What is (are) Moebius syndrome ? |
1 | What is (are) molybdenum cofactor deficiency ? |
1 | What is (are) monilethrix ? |
1 | What is (are) Mowat-Wilson syndrome ? |
1 | What is (are) moyamoya disease ? |
1 | What is (are) MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? |
1 | What is (are) Muckle-Wells syndrome ? |
1 | What is (are) mucolipidosis II alpha/beta ? |
1 | What is (are) mucolipidosis III alpha/beta ? |
1 | What is (are) mucolipidosis III gamma ? |
1 | What is (are) mucolipidosis type IV ? |
1 | What is (are) mucopolysaccharidosis type I ? |
1 | What is (are) mucopolysaccharidosis type II ? |
1 | What is (are) mucopolysaccharidosis type III ? |
1 | What is (are) mucopolysaccharidosis type IV ? |
1 | What is (are) mucopolysaccharidosis type VI ? |
1 | What is (are) mucopolysaccharidosis type VII ? |
1 | What is (are) Muenke syndrome ? |
1 | What is (are) multicentric osteolysis, nodulosis, and arthropathy ? |
1 | What is (are) multiminicore disease ? |
1 | What is (are) multiple cutaneous and mucosal venous malformations ? |
1 | What is (are) multiple endocrine neoplasia ? |
1 | What is (are) multiple epiphyseal dysplasia ? |
1 | What is (are) multiple familial trichoepithelioma ? |
1 | What is (are) multiple lentigines syndrome ? |
1 | What is (are) multiple mitochondrial dysfunctions syndrome ? |
1 | What is (are) multiple pterygium syndrome ? |
1 | What is (are) multiple sclerosis ? |
1 | What is (are) multiple sulfatase deficiency ? |
1 | What is (are) multiple system atrophy ? |
1 | What is (are) myasthenia gravis ? |
1 | What is (are) mycosis fungoides ? |
1 | What is (are) MyD88 deficiency ? |
1 | What is (are) MYH9-related disorder ? |
1 | What is (are) Myhre syndrome ? |
1 | What is (are) myoclonic epilepsy myopathy sensory ataxia ? |
1 | What is (are) myoclonic epilepsy with ragged-red fibers ? |
1 | What is (are) myoclonus-dystonia ? |
1 | What is (are) myofibrillar myopathy ? |
1 | What is (are) myopathy with deficiency of iron-sulfur cluster assembly enzyme ? |
1 | What is (are) myosin storage myopathy ? |
1 | What is (are) myostatin-related muscle hypertrophy ? |
1 | What is (are) myotonia congenita ? |
1 | What is (are) myotonic dystrophy ? |
1 | What is (are) N-acetylglutamate synthase deficiency ? |
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