33901 to 34000 most common queries

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

• Hypotonia in Later Stages
• Usually Fatal by Age 5 Years
• Normal Skin
• Mutation in the Microphthalmia-Associated Transcription Factor Gene
• Deposits Immunoreactive to Beta-Amyloid Protein
• Gnathostomiasis
• Fine Eyebrows
• Granular Deposits Replace Epithelial Basement Membrane
• Mildly Delayed Myelination
• Carpal Coalition
• Mild Facial Myokymia
• Mutation in the N-Glycanase 1 Gene
• Muscle Stiffness or Aching
• Hyperactive Deep Tendon Reflexes (Early Stage)
• Moderate to High Myopia
• Poor Growth in Infancy
• Mutations in the HEXA Gene
• Head Circumference Enlarged
• Friendly Personality
• Cognitive Developmental Delay
• Mutation in the Histidyl tRNA Synthetase 2 Gene
• Tubulofilamentous Nuclear or Cytoplasmic Inclusions
• Dystrophic Changes May be Present
• Proximal Muscle Involvement May Occur
• Salmonella Infection
• Caused by Mutation in the DNA Polymerase Gamma 2 Gene
• Mean Age at Onset: 45 Years
• Cleft Lip and-or Palate
• Hypersensitive to Stimuli
• Amorphous Substance in the Cytoplasm
• Subcortical White Matter Abnormalities (MRI)
• Rimmed Vacuoles (Biopsy)
• Poor Visual Spatial Construction
• Absence of Fibula
• Four Unrelated Patients Have Been Reported
• Prominent Lesser Trochanter
• Biopsy Merosin-Positive
• Two Main Phenotypes: Severe and Mild
• Macular Pallor with Prominence of Fovea Centralis (Cherry-Red Spot)
• Rickettsia Infection
• Subscalp Nodule (1.5-4 cm)
• One Family Has Been Reported (last Curated: June 2013)
• Symptoms Not Apparent at Rest
• Caused by Mutation in the Decorin Gene
• Inflammatory Liver Changes
• Caused by Mutation in the Sulfite Oxidase Gene
• Quadriceps Muscle Spared
• Reddish Hair
• Caused by Mutation in the Glutamyl tRNA Synthetase 2 Gene
• Ubiquitin Positive Inclusions
• Vascular Malformations
• Erythrocyte Morphology - Spherocytosis
• Allelic to Long QT Syndrome 1
• Deep Palatal Fovea
• Quadrupedal Locomotion
• Atretic Occipital Cephalocele
• Diabetic Ketoacidosis
• Distal Amyotrophy
• No Corneal Erosions
• Bilateral Congenital Hip Dislocation
• Mildly Progressive
• Howell-Jolly Bodies Seen in Peripheral Blood Smear
• Hamstring Muscle Affected
• Bright Copper Red Hair in Darker-Skinned Individuals
• Sella Turcica Enlarged
• Connective Tissue Dysplasia
• Hypoplastic Maxillary Sinus
• Intermittent Abnormal Liver Enzymes
• Head Circumference Large for Gestational Age
• Tau-Positive Inclusions May Be Found
• Mutation in the IL17RD Gene
• Bladder Dilatation
• Benign Migratory Glossitis
• Short Trunk Not Evident at Birth
• Hypoplastic and/or Dysplastic Calcaneous
• Mild Phenotype
• Congenital Progressive Corneal Stromal Opacification
• Possibly X-Linked Recessive Inheritance
• Mild Hypopigmentation
• Vasculitic Symptoms Associated with Cold Exposure
• Caused by Mutation in the Dimethylglycine Dehydrogenase Gene
• Pseudoanodontia
• Lower Limb Weakness as Presenting Feature
• Bony Defect with Cephalocele
• Motor Symptoms May be Present
• Fatal if Renal Transplant is not Performed
• One Family Reported with a Heterozygous Mutation in DLX5
• Chronic Glomerulonephritis
• Mitochondrial Respiration Impaired
• Mutations in the SLC16A1 Gene
• Wrinkling of Skin on Limbs
• Mutation in the RNASET2 Gene
• Freckled Skin
• Dimethylglycine Dehydrogenase Deficiency
• Asymmetric or Symmetric Polymicrogyria
• Multiple Non-Erupting Secondary Teeth
• Caused by Mutation in the Transmembrane Protein 173 Gene
• Mean Age of Onset 50.2 Years
• Normal Neurologic Development in Most Cases
• Normal Reflexes