34401 to 34500 most common queries

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

• Variable Age at Onset
• Onset of Weakness in Hands and Feet
• Ringed Sideroblasts on Peripheral Smear and Bone Marrow
• Mitochondrial Complex V Assembly Decreased
• Fractures at Birth
• Mutation in the Family with Sequence Similarity 20% Member C Gene
• Mild Upper Limb Ataxia
• Cross-Linked C-Terminal Telopeptide of Type 1 Collagen Increased
• Anti-Insulin Receptor Antibodies Absent
• Periventricular Leukomalacia
• Traumatic Rupture of the Kidney
• Thick Ribs
• More Common in Ashkenazi Jews
• Caused by Mutation in the Periaxin Gene (PRX)
• Earlier Onset Associated with Increased Severity
• Diffuse Maculopapular Eruption
• B and T-Cell Defects (Reported in 2 Sibs)
• Agenesis of Anterior Commissure
• Mitochondrial Complex V Activity in Fibroblasts Decreased
• Ganglion Cell Aggregates
• Large Halluces
• Fine Touch in the Lower Extremities Decreased
• Polymorphic B Cell Lymphoproliferation
• Reduced Penetrance (ca. 54%)
• Subcapsular Kidney Rupture
• Decreased Pulmonary Diffusion Secondary to Alveolar Infiltration
• Plasma Insulin Elevated
• Clavicles Elongated
• Coxa Valga Deformity with Epiphyseal Dysplasia
• Vocal Cord Paresis
• Urine O-Linked Sialopeptides Increased
• Moderate to Severe Hypotonia
• Small Renal Cysts
• Disarray of Neural Tissue in Muscularis Propria
• Caused by Mutation in the Ring Finger Protein 170 Gene
• Exocrine Pancreatic Function Normal
• Pigmentary Deposits
• Age at Onset from 3 to 51 Years
• Acid Sphingomyelinase Activity Decreased
• Juvenile Ovarian Granulosa Cell Tumor
• No Ossification of Vertebral Bodies C3-C5
• Focally Folded Myelin
• Transverse Process Fracture
• Hook-Shaped Clavicles
• Glycoamino Aciduria
• Sloping Shoulders due to Muscle Atrophy
• Diminished or Undetectable Responses in ERG
• Lipid Droplets (Muscle Biopsy)
• Mutations in the LCAT Gene
• Swelling of Smooth Muscle Cells
• Axonal Spheroids in the Dorsal Column
• Nasal Potential Difference Increased
• Bile Duct Abnormalities
• Other Auras May Occur
• Absence of Neurologic Manifestations
• Alpha-N-Acetylgalactosaminidase Activity Decreased or Absent
• Peripheral Pigment Deposits
• Natal Teeth
• Focal Myelin Thickening
• Epiphyseal Trauma
• Intercostal Muscle Involvement
• Death Often before Age 2
• Alpha-Lecithin:Cholesterol Acyltransferase Activity Decreased
• Brainstem Damage
• Respiratory Insufficiency due to Defective Ciliary Clearance
• Thinning of Outer Muscular Layer of Small Bowel
• Low-Set Columella
• Multiorgan Failure May Result from HS
• Focal Seizures with Frontal Lobe Origin
• Exaggerated Appetite
• α-N-Acetylgalactosaminidase Protein Decreased or Absent
• Chronic Vaginal Candidiasis
• Narrowed Vasculature
• Cytogenetic Deletion of Chromosome 17p13.3
• Radial Nerve Palsy
• Sural Nerve Biopsy Shows Demyelination
• Abnormal Teeth
• Plasma VLDL and LDL Increased
• Manual Dexterity Impaired
• Pons Damage
• Beating Amplitudes in Cilia Reduced
• Megacolon
• V-Shaped Nasal Tip
• Mutations in the RAB27A Gene
• Decreased Density of Myelinated Fibers and Axonal Degeneration
• Retinal Degeneration with Macular Involvement
• Possibly Aura
• Acute Hypoketotic Hypoglycemic Episodes
• No Tooth Problem
• Large, Protruding Tongue
• Absence of Projection C2b at the Central Pair Apparatus of Cilia
• Two of 3 Patients Became Wheelchair-Bound
• Normal Motor Development
• Cystic White Matter Degeneration
• Denture Problems
• Five Unrelated Patients Have Been Reported
• Wasting of Hand Muscles is Often an Early Symptom
• Humoral Deficiency (likely due to T-Cell Abnormalities)
• Central Vision Impaired
• Esophageal Motor Dysfunction