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Carnevale Krajewska Fischetto Syndrome Brown-Vialetto-Van Laere Syndrome Sabinas Brittle Hair Syndrome Pettigrew Syndrome Partington Syndrome X-Linked Mental Retardation Type 30 Methylmalonic Acidemia with Homocystinuria Type cblX Atkin Syndrome X-Linked Spinocerebellar Ataxia Type 1 Waisman Syndrome Stuve-Wiedemann Syndrome Spondyloperipheral Dysplasia X-Linked Syndromic Mental Retardation Type Snyder-Robinson Acrocallosal Syndrome Rosselli-Gulienetti Syndrome Aicardi-Goutières Syndrome Type 1 Proud Syndrome Primrose Syndrome C Syndrome Neuhauser Syndrome Mirhosseini-Holmes-Walton Syndrome Jawad Syndrome Oculopalatoskeletal Syndrome Generalized Connective Tissue Syndrome Malpuech Syndrome Lethal Ataxia with Deafness and Optic Atrophy Autosomal Recessive Spastic Paraplegia Type 23 Carpenter-Waziri Syndrome Jackson Weiss Syndrome Familial Infantile Bilateral Striatal Necrosis Hardikar Syndrome Cerebellotrigeminal Dermal Dysplasia X-Linked Spastic Paraplegia Type 1 Andermann Syndrome Galloway-Mowat Syndrome Onat Syndrome Fitzsimmons-Guilbert Syndrome Filippi Syndrome Pseudoaminopterin Syndrome Digitorenocerebral Syndrome Cowchock Syndrome Hypertrichotic Osteochondrodysplasia Allan-Herndon-Dudley Syndrome Jacobsen Syndrome Kleefstra Syndrome Type 1 Monosomy 9p Recombinant Chromosome 8 Syndrome Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia Type 2 Slow-Channel Congenital Myasthenic Syndrome Unverricht-Lundborg Syndrome Lafora Disease Action Myoclonus - Renal Failure Syndrome CADASIL Syndrome Short Sleeper Classical Phenylketonuria Juvenile Neuronal Ceroid Lipofuscinosis Emery-Dreifuss Muscular Dystrophy Type 1 Scapuloperoneal Spinal Muscular Atrophy Classic Homocystinuria FRAXE-Related Mental Retardation Early Infantile Epileptic Encephalopathy Type 6 Reynolds Syndrome Myelodysplastic Syndrome due to 5q Deletion Spondyloepimetaphyseal Dysplasia Type Strudwick  Harlequin Type Ichthyosis Costello Syndrome 3-Methylglutaconic Aciduria Type 3 Barth Syndrome Watson Syndrome Multiple Self-Healing Squamous Epithelioma Hereditary Neutrophilia Isolated Growth Hormone Deficiency Type 3 Book's Syndrome Curry Hall Syndrome Chromosome 18p Deletion Syndrome Uncombable Hair Syndrome Cutis Laxa-Marfanoid Syndrome Mandibuloacral Dysostosis Dermochondrocorneal Dystrophy Congenital Generalized Fibromatosis Lenz-Majewski Syndrome Osteoporosis-Pseudoglioma Syndrome Kyphomelic Dysplasia Cranioectodermal Dysplasia Type 1 Tricho-Rhino-Phalangeal Syndrome Type 1 Nievergelt Syndrome Metaphyseal Chondrodysplasia, Spahr Type Wolcott-Rallison Syndrome Spondyloepimetaphyseal Dysplasia Type Irapa Dyssegmental Dysplasia Type Rolland-Desbuquois Short Rib-Polydactyly Syndrome Type Beemer-Langer Schneckenbecken Dysplasia Joubert Syndrome Pseudoachondroplasia Myopathy with Abnormal Lipid Metabolism Autosomal Recessive Centronuclear Myopathy