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Boli A-Z Ablepharon-Macrostomia Syndrome Acromelic Frontonasal Dysostosis Adie Pupil Al-Gazali-Bakalinova Syndrome Al-Raqad Syndrome Androgen Insensitivity Syndrome, Mild Aniridia 1 Ankylosis Anorexia Nervosa 1 Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 5d Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Arthropathy Blood Group--Ahonen Blood Group, I System Brown Syndrome Cap Myopathy Cardiomyopathy, Familial Hypertrophic, 4 Childhood-Onset Nemaline Myopathy Clubfoot Congenital Contractures Congenital Fiber-Type Disproportion Congenital Structural Myopathy Digitotalar Dysmorphism Dilated Cardiomyopathy Ectodermal Dysplasia Fanconi Anemia, Complementation Group E Fetal Akinesia Deformation Sequence Fissured Tongue Hepatic Adenomas, Familial Hydronephrosis Hypopituitarism Hypotonia Ichthyosis Juvenile Glaucoma Loeys-Dietz Syndrome Marden-Walker Syndrome Microcephaly, Epilepsy, and Diabetes Syndrome Multiple Pterygium Syndrome, Escobar Variant Multiple Pterygium Syndrome, Lethal Type Muscle Tissue Disease Myopathy Myopathy, Congenital, with Fiber-Type Disproportion Myopathy, Proximal, and Ophthalmoplegia Myopathy, Tubular Aggregate, 1 Nemaline Myopathy Neuronitis Ocular Motility Disease Polyglucosan Body Myopathy 1 with or Without Immunodeficiency Prader-Willi Syndrome Proteus Syndrome Ptosis Sclerosteosis 2 Scoliosis Strabismus Tetraamelia Syndrome, Autosomal Recessive Tongue Disease Typical Congenital Nemaline Myopathy Velocardiofacial Syndrome