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Malpuech facial clefting syndrome Charge syndrome Apert syndrome Birth defect Dyskeratosis congenita Congenital myasthenic syndrome Incontinentia pigmenti Neotenic complex syndrome Angelman syndrome Kallmann syndrome Ohtahara syndrome Proteus syndrome Nephronophthisis Crouzon syndrome Pfeiffer syndrome Pierre robin sequence Achondroplasia Genetic disorder Treacher collins syndrome Paramyotonia congenita Phace syndrome Congenital adrenal hyperplasia Leigh syndrome Cephalic disorder Cleidocranial dysostosis Amelogenesis imperfecta Congenital heart defect Sotos syndrome Stickler syndrome Taijin kyofusho Noonan syndrome Mcleod syndrome Diastrophic dysplasia Symbrachydactyly Branchio-oto-renal syndrome Carpenter syndrome Kawasaki disease Methylmalonic acidemia Schwannomatosis Ectodermal dysplasia Leber congenital amaurosis Progeria Meconium aspiration syndrome Alagille syndrome Multicystic dysplastic kidney Dopamine-responsive dystonia Marfan syndrome Myotonia congenita Acrania Steatocystoma multiplex Dysplastic nevus syndrome Digeorge syndrome Cornelia de lange syndrome Robinow syndrome Focal cortical dysplasia Muenke syndrome Fg syndrome Cri du chat syndrome Goldenhar syndrome Cancer syndrome Carcinoid syndrome Joubert syndrome Cat eye syndrome Fabry disease Opsoclonus myoclonus syndrome Medullary sponge kidney Coats' disease Refsum disease Shone's syndrome Tethered spinal cord syndrome Pseudoxanthoma elasticum Dentin dysplasia Optic nerve hypoplasia Hypermobility spectrum disorder Loose anagen syndrome Corneal dystrophy Harlequin-type ichthyosis Fragile x syndrome Brugada syndrome Epidermolysis bullosa dystrophica Lig4 syndrome Syndrome Lipodystrophy Fanconi syndrome Noncompaction cardiomyopathy Omenn syndrome Crest syndrome Laminopathy Blepharophimosis Albinism in humans Diffuse infantile fibromatosis Persistent truncus arteriosus Pachydermoperiostosis Seckel syndrome Paget's disease of bone Nephrogenic systemic fibrosis Plagiocephaly Dentinogenesis imperfecta Scaphocephaly Situs ambiguus

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