46101 to 46200 most common queries

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

• Some Patients Never Gain Ambulation or Become Wheelchair-Bound
• Flares of Erythema, Scaling and Pustules
• Early-Onset Corneal Degeneration
• Glutathione Deficiency
• Extreme Phenotypic Variability
• Chronic Failure to Thrive
• Usher Syndrome Type 3 - 1 Locus
• CD3- CD15+ CD16+ Natural Killer Cells Decreased
• Brain MRI Abnormalities Improve with Time
• Absence of Anterior Pituitary
• Elongated Palpebral Fissures
• Central Pili Mono-Bifurcati
• Mutation in the Kinesin Family Member 1B Gene
• Dysphoric Mood
• Mutation in the Sepiapterin Reductase Gene
• Alteration of Consciousness
• Psoriasiform Erythroderma
• Ventricular Dilatation
• Allelic to Tyrosinemia Type 3
• Rarely Reported in Infants
• Pigment Does not Develop with Age
• Cystic Lysis of the Deep White Matter
• Allelic to Mucopolysaccharidosis IVB
• Usher Syndrome Type 2 - 3 Loci
• Adrenal Crisis in Neonatal Period
• No Hyperphenylalaninemia
• Subcortical Cysts in Temporal Lobe
• Posterior Fossa Cysts
• Distal Sensory Impairment
• Interhemispheric Lipoma
• Persistence of Corneodesmosomes in Stratum Corneum
• No Evidence of Immunodeficiency
• Nodular Heterotopia
• Symptoms Worse with Cold Exposure
• Mean Age of Onset in Third Decade
• Cherry Red Spot in Half the Patients
• Complete Absence of Melanin Synthesis
• Increased Iron Deposition in the Basal Ganglia
• Absent or Severely Delayed Psychomotor Development
• Usher Syndrome Type 1 - 7 Loci
• One Family with 6 Probands Described
• Urine Pterins Normal
• Mild Clumsiness
• Moderately Elevated IgE
• Some Patients Have Neurologic Involvement
• Minimal Hair Growth
• Septum Pellucidum or Cavum Deficient
• May Regress in Adulthood
• Cerebellar Lesion
• Expanded CAG Trinucleotide Repeats in the Ataxin 2 Gene
• No Ability to Tan
• Vestibular Function Absent
• Full Forehead
• Ultrasound Scan Abnormal
• Loss of Independent Ambulation within a Few Years
• Accumulated Lipid Droplets Seen on Muscle Biopsy
• Urine HVA, 5-HIAA and VMA Decreased
• Bone Density Decreased
• Onset of Macrocephaly in 1st Year of Life
• Recurrent Blepharitis due to Infection with Staphylococcus Aureus
• Lipid-Linked Oligosaccharides Decreased
• Pathogenic Alleles Contain Greater than 41 Repeats
• Progresses Through Puberty Then Stabilizes
• Precipitated by Fever
• Posterior Column Degeneration
• Acute Allergic Interstitial Nephritis
• Accounts for 70% of All Usher Syndrome Patients
• Asymmetric Visual Evoked Potentials
• Glomerular Epithelial Cytoplasmic Vacuolization
• Sleep Disturbance or Sleep Apnea (Obstructive, Central, or Mixed)
• Progressive Loss of Movement Control
• Cerebrospinal Fluid Dihydrobiopterin Elevated
• Bowing of Upper Limb
• Mutation in the HEPACAM Gene
• Normal Alleles Contain 6 to 28 Repeats
• Disialo- and Asialotransferrin Increased
• Onset at Age 14 Months to 4 Years
• Onset at Mean Age of 13 Years (Range: 6-43 Years)
• Recurrent Otitis Externa due to Infection with S. Aureus
• Caused by Mutation in the Usherin Gene
• Dopamine-Responsive Parkinsonism
• Survival up to 10 Years
• Generalized Seizure
• Apneic Spells
• Chondritis of the Ear
• Absent Stereopsis due to Anomalous Decussation at the Optic Chiasm
• Chorea of all Limbs
• Cerebrospinal Fluid Biopterin Elevated
• One French Family Has Been Reported
• Subcortical Cysts May Occur Elsewhere
• Heterozygous Deletion of the Terminal Band 22q13.3 Including SHANK3
• Mutation in the SH3BP2 Gene
• Absent or Hypoplastic Thumbs
• Long Fingers with Squared Tips
• Normal Vestibular Response
• Warm Skin
• Age at Onset: 7 Months to 3 Years
• Cortical Calcifications
• Extrapyramidal Features
• Fasciculation-Like Movements