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List represents a sample of symptoms, diseases, and other queries. Updated weekly.

Presentation at 3-6 Weeks of Age Unsaturated Cobalamin Binding Capacity Reduced Majority of Cases from Middle Eastern Countries Lipid Droplets in Basal Keratinocytes Lipid Droplets in Granulocytes Unusual Cabbage-Like Odor Abnormal Blood Coagulation Studies (Prolonged PT and PTT) Urine Delta-Aminolevulinic Acid Elevated Hepatic Transaminases Increased Plasma and Urine Succinylacetone Increased Deficient Hepatic 4 Hydroxyphenylpyruvate Dioxygenase Fumarylacetoacetate Hydrolase Deficiency Mutation in the 4-Hydroxyphenylpyruvate-Dioxygenase Gene 4-Hydroxyphenylacetic Aciduria 4-Hydroxyphenyllactic Aciduria 4-Hydroxyphenylpyruvic Aciduria 4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency Liver Function Normal Aplasia or Hypoplasia of the Phalanges of the Hand Bowed Short Femora Long Ear Vestibular Function Absent Accounts for 70% of All Cases of Usher Syndrome Caused by Mutation in the Usherin Gene Normal Vestibular Response USH3 Cases Account for 40% of all Usher Patients in Finland Caused by Mutation in the CLRN1 Gene Reduction of Central Visual Acuity Progressive Restriction of Visual Feilds Variable Vestibular Dysfunction First Described in Acadian Population of Louisiana Caused by Mutation in the 73 kD PDZ Domain Containing Protein Progressive Prepubertal Onset Retinitis Pigmentosa Profound Congenital Sensorineural Hearing Loss Preaxial or Postaxial Polydactyly Sublingual Nodules Lobed Tongue Intraoral Frenula See Also CblC Responsive to Vitamin B12 Reticulate Pigmented Skin Abnormalities Free Cyanocobalamin in Fibroblasts Increased Activity of Methionine Synthase Decreased Activity of Methylmalonyl CoA Mutase Decreased See Also CblD Variable Response to Vitamin B12 Therapy Early Onset: More Severe Course and Early Death Onset Usually in First Year of Life Cobalamin Decreased in Liver, Kidney, and Cultured Fibroblasts Cobalamin Normal Large, Floppy Ears Thrombotic Microangiopathic Nephropathy Extrapyramidal Symptoms - Later Onset Confusion - Later Onset Decreased Cognition (Later Onset) Acute Neurologic Decompensation 'Variant 2' Has Isolated Methylmalonicaciduria and Decreased AdoCbl Cobalamin Normal or Mildly Reduced Methylcobalamin Decreased Adenosylcobalamin Decreased Methionine Decreased Caused by Mutations in the Vitamin D Receptor Gene Eyelashes May Be Spared Alopecia Appears within 12 Months of Age and Is Permanent Cysts Are Similar to Those Seen in 'Atrichia with Papular Lesions' Follicular Remnants in Cysts Absence of Normal Hair Follicles Cutaneous 0.5 to 1.0 cm Bluish and Flesh-Colored Papules Resistance to 1,25-Dihydroxyvitamin D3 Subperiosteal Erosions due to Secondary Hyperparathyroidism Dental Caries by Age 2 Years Protuberant Abdomen due to Muscle Weakness 'Bulging' of the Costochondral Junction Death in Childhood May Occur Restlessness at Birth Mutation in the SOX10 Gene Caused by Mutation in the Endothelin-3 Gene A Subset of Patients Have Neurologic Abnormalities Coarse, Low-Pitched Voice Thin Deep Set Nails Prominent Toe Pads Flared Metaphyses - Especially Distal Femora and Humeri Dysharmonic Bone Age (Carpals More Advanced than Phalanges) Round Face in Infancy Weight More Increased than Height Prenatal or Postnatal Weight Increased Prenatal or Postnatal Length Increased Phenotypically Similar Autosomal Dominant Form: Rhizomelic Limb Shortening Broad Iliac Wings Bulbous Deformity of Ischial and Pubic Bone Normal Adult Height Thin, Sparse, Gray Hair Poor Mitogenic Response to Growth Factors Variegated Translocation Mosaicism in Cultured Fibroblasts Slender Limbs Osteosarcoma and Meningioma Malignancy in Approximately 10% Stocky Trunk Limited Jaw Opening