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Arylsulfatase A Activity Normal or Mildly Decreased Progressive Developmental Delay Allelic to Metaphyseal Dysplasia without Hypotrichosis Allelic to Cartilage- Hair Hypoplasia Adult Onset of Symptoms Has Been Reported Activity of 3-Methylglutaconyl-CoA-Hydratase Decreased Urinary Hydroxyisovaleric Acid Increased Urinary Incontinence (Adult) Progressive Basal Ganglia Atrophy Variable Features Slender Digits Floppy Ears Small Midface Microcystic Dysplasia Central Canal Malformation Deficient Myelination Abnormal Sulci Presence of Hand Anomalies Determines Classification Bifid Distal Phalanx of Great Toe Accessory Ossification Proximal Phalanx - 2nd Digit Triangular Phalanges of the Hand Phalangeal Dislocation Dislocated Radioulnar Joints Greater Trochanter Elevated Average Adult Height 114 cm Caused by Mutation in the C20ORF7 Gene Mutation in the NDUFA11 Gene Allelic to Mucolipidosis Type 2 Complementation Group C Complementation Group B Complementation Groups - Complementation Group A Iduronate Sulfatase in Fibroblasts Decreased Fibroblast Alpha Mannosidase Decreased Beta-Hexosaminidase in Fibroblasts Decreased Fibroblast Arylsulfatase A Decreased Iduronate Sulfatase Increased Alpha-Mannosidase Increased Beta Hexosaminidase Increased Fine Corneal Opacities Mutation in the Beta Galactosidase Gene Mutation in the TRIM37 Gene Globular Shaped Heart On X-Ray Generalized Thinning of Tubular Bones Thin, Fishbone-Like Ribs Mutation in the CAPN3 Gene Motor Clumsiness Transient Eosinophilia in First Decade Possibly Late Onset of Mild Symptoms in Heterozygous Carriers Many Patients Lose Independent Mobility after 25 Years Age at Onset 15 to 25 Years Mutation in the Dysferlin Gene Increased Connective Tissue and Fat in Muscles Upper Limb Involvement Occurs Later or Not at All Primarily Affects Lower Limbs Intermittent Exacerbations Onset in First Decade < 5 Years Endplate Potential and Amplitudes Decreased Decrements in Some Muscles (EMG) Decreased Postsynaptic Length Degenerating Nerve Terminals Denuded Postsynaptic Regions Muscle Weakness Congenital Caused by Mutation in the C8ORF38 Gene Mutation in the NDUFA2 Gene Allelic to Senior Loken Syndrome Type 1 and Joubert Syndrome Type 4 Mutation in the NEU1 Gene Slurred Speech (Type I) Cardiomegaly Type 2 - Infantile Bone Marrow Foam Cells - Type 2 Vacuolated Lymphocytes (Type II) Neuraminidase Deficiency Urine Sialylglycopeptides Increased Urinary Excretion of Sialylated Oligosaccharides Congenital Proteinuria Type 2 Congenital Epiphyseal Stippling (Type 2) Muscle Atrophy Type 1 Lens Opacities (Infantile and Juvenile Type 2) Cherry Red Spot ( Type 1, Type 2 Infantile and Juvenile Foms) Nystagmus Type 1 Congenital Facial Edema Type 2 Coarse Facies - Type 2, All Types Splenomegaly (All Subtypes of Type 2) Congenital Neonatal Ascites Type 2 Short Stature (Infantile and Juvenile Type 2) Dysmetria Type 1 Myoclonus Type 1 and Type 2 - Infantile and Juvenile Seizures - Type 1 and Type 2 - Juvenile Ataxia - Type 1 and Type 2 - Infantile and Juvenile Caused by Mutation in the Prosaposin Gene (PSAP) Saposin A Deficiency Activity of Galactocerebrosidase Decreased Diffuse White Matter Dysmyelination Loss of Spontaneous Movements Neurologic Regression around Age 3 Months Slowed Dysrhythmia and Multifocal Discharges Limited Expressive Language Neurologic Regression Following Seizure Onset Initially Normal Development NKT Cells Decreased Anti-dsDNA Antibody