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Ca-Cl

C Syndrome (Opitz Trigonocephaly Syndrome) C-II Anapolipoproteinemia CADASIL Café-au-Lait Spots Syndrome (Neurofibromatosis, Type VI) Caffey Disease (Infantile Cortical Hyperostosis) Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) Calloso Genital Dysplasia Callus Disease Calpainopathy Calvarial Hyperostosis Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) Camera Stella Syndrome (Leonard Hughes Syndrome, Spondyloendochromatosis, Spondyloepimetaphyseal Dysplasia) Camfak Syndrome Campomelia Camptobrachydactyly Camptodactyly Camurati Engelmann Disease (Progressive Diaphyseal Dysplasia) Canale-Smith Syndrome Canavan's Disease Cantalamessa Baldini Ambrosi Syndrome (Hypogonadism Mitral Valve Prolapse Mental Retardation) Cantrell Haller Ravitsch Syndrome (Cantrell Pentalogy, Thoracoabdominal Syndrome) Cantrell Pentalogy Cantu Sanchez Corona Fragoso Syndrome Cantu Sanchez Corona Garcia Syndrome Cantu Sanchez Corona Hernandes Syndrome (Craniofaciocardioskeletal Syndrome) Cantu Syndrome (Hypertrichotic Osteochondrodysplasia) CAPOS Syndrome Caratolo Cilio Pessagno Syndrome (White Matter Hypoplasia Corpus Callosum Agenesia Mental Retardation) Carbamoyl Phosphate Synthetase Deficiency Carbohydrate Deficient Glycoprotein (CDG) Syndrome (Phosphomannoisomerase Deficiency) Carbohydrate-Inducible Hyperlipemia Carbon Baby Syndrome (Progressive Black Carbon Hyperpigmentation of Infancy) Cardiac Conduction Defect Cardiac Valvular Dysplasia Cardiofaciocutaneous (CFC) Syndrome (Reynolds Neri Hermann Syndrome) Cardiogenital Syndrome (Genital Anomaly Cardiomyopathy, Najjar Syndrome) Cardiomelic Syndrome Cardiomyopathies Cardiovertebral Syndrome Carey Fineman Ziter Syndrome (Myopathy Moebius Robin Syndrome) Carmi Syndrome Carnevale Canun Mendoza Syndrome (Multicentric Osteolysis Nephropathy) Carnevale Hernandez Castillo Syndrome (Triphalangeal Thumbs Brachyectrodactyly) Carnevale Krajewska Fischetto Syndrome (Ptosis Strabismus Diastasis) Carney Syndrome (Myxoma-Spotty Pigmentation-Endocrine Overactivity) Carnitine Palmitoyl Transferase 1 Deficiency Carnitine Palmitoyl Transferase 2 Deficiency Carnitine Transporter Deficiency (Systemic Carnitine Deficiency) Carnitine-Acylcarnitine Translocase Deficiency Carnosinemia (Carnosinase Deficiency) Carpenter's Syndrome Cartilage-Hair Hypoplasia Like Syndrome Cartilage-Hair Hypoplasia Syndrome (Metaphyseal Chondrodysplasia, McKusick Type) Cartwright Nelson Fryns Syndrome (Growth Retardation Mental Retardation Phalangeal Hypoplasia) Cassia Stocco Dos Santos Syndrome (Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies) Castleman Disease (Angiofollicular Ganglionic/Lymph Hyperplasia, Benign Lymphoma, Follicular Lymphoreticuloma, Giant Ganglionic Hyperplasia, Lymphoid Hamartoma) Castro Gago Pombo Novo Syndrome (Microcephaly Albinism Digital Anomalies Syndrome) Cat Cry Syndrome Cat Rodrigues Syndrome (Sketetal Dysplasia Coarse Facies Mental Retardation) Cat-Eye Syndrome (Ocular Coloboma-Imperforate Anus) Catalase Deficiency Cataract Catch 22 Catel Manzke Syndrome (Pierre Robin Syndrome Hyperphalangy Clinodactyly) Catlin Marks (Foramina Parietalia Permagna, Parietal Foramina [Type 1/Symmetric]) Caudal Duplication Caudal Regression Syndrome (Sacral Agenesis) Cayler Syndrome (Asymmetric Crying Facies, Facial Paresis Partial Unilateral) CCA Syndrome CCGE Syndrome (Cleft Palate Cardiac Defect Ectrodactyly, Richieri Costa Orquizas Syndrome) CDK4 Linked Melanoma Cecato De Lima Pinheiro Syndrome (Oculo Tricho Dysplasia) Celiac Disease/Sprue (Gee Herter Disease, Gee Thaysen Disease, Gluten-Sensitive Enteropathy, Huebner Herter Disease, Idiopathic Steatorrhea, Nontropical Sprue) Cenani Lenz Syndactylism (Syndactyly, Cenani Lenz Type) Cennamo Gangemi Syndrome (Hydrocephalus Cataract Microphthalmos) Central Core Disease Centralopathic Epilepsy Centromeric Instability Immunodeficiency Syndrome (ICF Syndrome) Centronuclear Myopathy (Myotubular Myopathy) Centrotemporal Epilepsy Cephalopagus Cerebellar Ataxia Cerebellar Hypoplasia Cerebellar Vermis Agenesis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis (COACH) Syndrome Cerebelloparenchymal Disorder (CPD) Cerebellum Agenesis with Hydrocephaly Cerebral Arteriovenous Malformations Cerebral Arteriopathy Cerebral Atrophy Cerebral Calcification Cerebral Cavernous Malformations Cerebral Cholesterinosis Cerebral Gigantism Cerebral Palsy Cerebral Sclerosis Cerebrocostomandibular Syndrome Cerebrohepatorenal Syndrome Cerebroocular Dysgenesis Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cerebrooculodentoauriculoskeletal Syndrome Cerebrooculofacioskeletal (COFS) Syndrome (Pena Shokeir Syndrome, Type II) Cerebrooculogenital Syndrome (Duker Weiss Siber Syndrome) Cerebrooculoskeletorenal Syndrome (Silengo Lerone Pelizzo Syndrome) Cerebrorenodigital Syndrome (Meckel Like Syndrome) Cerebroside Sulfatase Deficiency Cerebrotendinous Xanthomatosis Ceroid Lipofuscinose Cervical Hypertrichosis Cervicooculoacoustic Syndrome (Wildervanck Syndrome) CFC Syndrome (Dysostosis Stanescu Type, Osteosclerose Type Stanescu) Chanarin Dorfman Disease (Lipidosis with Triglycerid Storage Disease, Neutral Lipid Storage Myopathy) Chands Syndrome Chang Davidson Carlson Syndrome (Hypogonadism Retinitis Pigmentosa) Char Douglas Dungan Syndrome (Extrasystoles Short Stature Hyperpigmentation Microcephaly) Char Syndrome (Patent Ductus Arteriosus Familial) Charcot Marie (Tooth) Disease (CMT, Hereditary Motor and Sensory Neuropathy, Peroneal Muscular Atrophy) CHARGE Syndrome Charlevoix Disease Charlie M Syndrome Chediak Higashi Syndrome Chediak-Higashi-Like Syndrome (Albinism Immunodeficiency, Griscelli Disease, Silvery Hair Syndrome) Chemke Oliver Mallek Syndrome (Oculo Digital Syndrome) Chemke Syndrome Chen Kung Ho Kaufman McAlister Syndrome (Cleft Palate Heart Disease Polydactyly Absent Tibiae) Cheney Syndrome Cherubism Chiari Type I Malformation Chiari's Disease CHILD Syndrome Chime Neuroectodermal Dysplasia Chitayat Haj Chahine Syndrome (Hyperphalangism Dysmorphy Bronchomalacia) Chitayat Meunier Hodgkinson Syndrome (Pierre Robin Sequence Faciodigital Anomaly) Chitayat Moore Del Bigio Syndrome (Dandy Walker Macrocephaly) Chitty Hall Baraitser Syndrome (Deafness Epiphyseal Dysplasia Short Stature) Chitty Hall Webb Syndrome (Tibiae Bowed Radial Anomalies Osteopennia Fractures) Choanal Atresia Choledochal Cyst Hand Malformation Cholestasis Cholesterol Ester Storage Disease Chondrodysplasia Chondrodystrophy Chondroectodermal Dysplasia Chondrogenesis Imperfecta Chondrosarcoma Chordoma Chorea Choreoacanthocytosis Amyotrophic Choreoathetosis Chorioretinopathy Choroideremia Choroidocerebralcalcification Syndrome Chotzen Syndrome (Acrocephalosyndactyly, Type 3; Saethre Chotzen Syndrome) Christ Siemens Touraine Syndrome Christian Demyer Franken Syndrome (Mental Retardation Skeletal Dysplasia Abducens Palsy) Christian Johnson Angenieta Syndrome (Low Birth Weight Dwarfism Dysgammaglobulinemia) Christian Syndrome (Adducted Thumb Syndrome, Recessive Form; Craniosynostosis Arthrogryposis Cleft Palate) Christianson Fourie Syndrome (Hidrotic Ectodermal Dysplasia Type Christianson Fourie) Christmas Tree Syndrome Chromozomal Disorders Chromosome 1 Ring Chromosome 4 Ring Chromosome 6 Ring Chromosome 7 Ring Chromosome 8 Ring Chromosome 10 Ring Chromosome 12 Ring Chromosome 14 Ring Chromosome 18 Ring Chromosome 19 Ring Chromosome 20 Ring Chromosome 21 Ring Chromosome 22 Ring Chromozome X, Monosomy X Chronic Granulomatous Disease Chronic Intestinal Pseudoobstruction Chronic Mucocutaneous Candidiasis Chudley Lowry Hoar Syndrome (Mental Retardation X-Linked Short Stature Obesity Hypogonadism) Chudley Rozdilsky Syndrome (Mental Retardation Myopathy Short Stature Endocrine Defect) Chylomicron Retention Disease Chylous Ascites Ciliary Dyskinesia-Bronchiectasis Cilliers Beighton Syndrome (Hip Dysplasia, Beukes Type) CINCA Syndrome (Chronic, Infantile, Neurological, Cutaneous, and Articular Syndrome) Citrullinemia (Argininosuccinic Acid Synthetase Deficiency) Clayton Smith Donnai Syndrome (Ichthyosis Tapered Fingers Midline Groove Up) Cleft Hand Absent Tibia (Tibial Aplasia with Ectrodactyly) Cleft-Limb-Heart Malformation Syndrome Cleft Lip/Palate Cleft Tongue Syndrome Cleidocranial Dysostosis/Dysplasia (Marie Sainton Disease, Syndrome of Schenthauer-Marie-Sainton, Mutational Dysostosis) Cleidorhizomelic Syndrome Clinodactyly Cloacal Exstrophy Clouston Syndrome Clubbing of Digits Cloverleaf Skull (Kleeblattschadel)

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