42601 to 42700 most common queries

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

• Normal Phalanges
• Abnormalities of the Toes (25%)
• Mutation in the COL6A1 Gene
• Fine Motor Task Disruption
• IgA IgG IgM Decreased
• Caused by Duplication of at Least 325kb on 10q24
• Small Atrophic Testes
• Median Age at Diagnosis 7 Years
• Hyperreflectivity of Nerve Cell Layer
• Erythrocyte Adenosine Deaminase Activity Reduced
• Lacunar Bone Lesions
• Paroxysmal Activity - Spikes Occipital Right
• Characteristic Hoarse Voice
• Anomalous Anterior Teeth
• Slender Upper Lip
• Exaggerated Oral Rugae and Frenula
• Spondylarthropathy
• Normal Metatarsals
• Conductive or Mixed Hearing Loss
• Bleeding Tendency Not Increased
• Broad Lower Face
• Alpha Asymmetry
• High Frequency of Chromosome Breaks in Lymphocytes
• Hyperreflectivity of Ganglion Cell Layer
• Severe Progressive Ulceration of Lower Extremities
• Short Finger with Ulnar Deviation
• Pelvic Dysplasia
• Suppression
• Bone Dysplasia
• Bifid Tongue (30-45%)
• Proximal Widening of Ulna
• Mutation in the RNF168 Gene
• Highly Variable Expression
• Subtle Foveal Changes
• Urine 2-Ethylhydracrylate Increased
• Joint Stiffness
• Suppression Parietal
• Broad Ends of Toes
• Allelic Disorder to Hyperkalemic Periodic Paralysis
• Multifocal Intractable Seizures
• Large, Doughy Hands
• Absent Specific Antibody Response
• SCE Normal in Heterozygotes
• T Cell Proliferation Decreased
• Ossified Pinnae
• Urine 3 Methylglutarate Elevated
• Lumbosacral Back Pain
• Mutation in the Peptidase D Gene
• Generalized Suppression
• Variable Dysmorphic Features
• Tall Narrow Ilia
• Broad Ends of Fingers - 'Pseudoclubbing'
• Progressive Pulmonary Failure
• Buccal Frenuli
• Penetrance in Females Reduced
• Irregular Cortical Ribbon
• No Facial Weakness
• Absent or Small, Dysplastic Thymus
• High Rate of Sister Chromatid Exchange
• Naive T Cells Low
• Bluish Sclerae
• Pruritic, Eczematous Lesions
• Ultrastructural Abnormalities in Mitochondria on Electron Microscopy
• Defect in Double-Stranded DNA Repair
• Neonatal Cystic Lesions of the Pinnae
• Increased Number of Carpal Ossification Centers
• Periodic Patterns
• Mutation in the SET Binding Protein 1 Gene
• Hyperplastic Oral Frenuli
• One Third of Cases Are Sporadic
• Hypoplastic Glenoid
• Muscle Biopsy Shows Core-Like Regions Devoid of Oxidative Activity
• Bone Spicule-Like Pigmentation
• Impaired Lymphocyte Proliferation in Response to Malignancy
• Lack of Acquired Antibodies
• Impetigo-Like Eruptions
• Caused by Mutations in the NHS Gene
• Absent T Cells
• Drowsy EEG Alpha Rhythm Attenuated
• Variably Dysmorphic Facies
• Adult Height: 100-140 cm
• IgA IgG and IgM Variably Decreased
• Dark Nasal Cartilages
• Adult-Onset Polycystic Kidney (50%)
• Onset Usually in Second Decade
• Corneal Diameter Normal
• Wrist Joint Dislocation
• Immunoglobulin Deficiency (IgA, IgG, IgM)
• Loss of Myofibrillar Organization (Muscle Biopsy)
• Hypoplastic Optic Chiasm
• Slowing
• Mutation in the BRCA1 Associated ATM Activator 1 Gene
• Mild to Moderate Mental Retardation
• Diastema
• Glycosylation of Alpha Dystroglycan Decreased
• Frequent Fungal Viral and Opportunistic Infections
• Mildly Impaired Motor Control
• Normal Phytanic Acid
• Hypokalemia Occurs during Paralytic Attacks
• Diaphyseal Incurving