32601 to 32700 most common queries

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

• Possibly Hypothyroidism
• No Goiter
• Normal Sized Thyroid Gland
• Liveborn Often Die within First Week of Life
• Mutation in the LMNA Gene
• Caused by Mutation in the Zinc Metalloproteinase STE24 Gene
• Normal Scalp Hair
• Long Nails
• Absence of Normal Rete Ridge Pattern
• Abnormal Alignment of Collagen Bundles
• Dermal Thinning
• Prominent Superficial Blood Vessels
• Tight, Rigid Skin
• Overtubulated Long Bones
• Absent or Sparse Eyebrows
• Expressionless Facies
• Ribbon-like Ribs
• Thin Dysplastic Bipartite Clavicles
• Anterioposterior Diameter of Thorax Increased
• Possibly Neurologic Dysfunction after Delayed Diagnosis
• Untreated Neutropenia Facilitates Severe Infections
• 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
• Usher Syndrome Type 3 - 1 Locus
• Usher Syndrome Type 2 - 3 Loci
• Usher Syndrome Type 1 - 7 Loci
• Vestibular Function Absent
• Accounts for 70% of All Usher Syndrome Patients
• 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 Usher syndrome 3A Gene (USH3A)
• 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
• 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)
• '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
• 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
• Prominent Toe Pads
• Flared Metaphyses - Especially Distal Femora and Humeri