21901 to 22000 most common queries

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

• Axonal Degeneration Seen on Nerve Conduction Studies
• Loss of Myelinated Fibers in Spinal Cord Roots
• Bulbar Symptoms May Occur
• Homozygotes Have Earlier Onset and a more Severe Disorder
• High Incidence in Sweden and Finland
• Adult Onset - Range 40-60 Years
• Myopathic Changes Seen Muscle Biopsy
• Weakness of the Anterior Tibial Muscle and Toe Extensors
• Retinal Vessels Severely Attenuated
• Severe Night Blindness
• Poor Central Vision or Blindness from Birth
• Defective DNA Repair
• Cells Show Increased Sensitivity to Ionizing Radiation
• Mild Distal Muscle Wasting
• Mild Lower Limb Spasticity
• Temperature Rhythm Phase-Advanced by 3-4 Hours
• Melatonin Rhythm Phase-Advanced by 3 4 Hours
• Mutation in the Homolog of the Drosophila Period 2 Gene
• Mutation in the Casein Kinase 1 Delta Gene
• Morning Larks
• Short Circadian Rhythm Cycle
• Early Sleep Offset - Almost 4 Hours Advanced Over Controls
• Early Sleep Onset - Almost 4 Hours Advanced Over Controls
• Congenital or Rapidly Progressive Hearing Loss
• Normal Psychomotor Development in Most
• Variable Age at Onset: Early Childhood to Adulthood
• Amyotrophy of the Upper Limbs
• Amyotrophy of the Lower Limbs
• Mutation in the DTNA Gene (-0001)
• Prominent Endomyocardial Trabeculations
• Ovarioleukodystrophy in a Subset of Patients
• Mutation in the Perforin 1 Gene
• Mutation in the PIK3R2 Gene
• Increased Risk of Medulloblastoma
• Prominent Philtral Groove
• Small Birth Length
• Duplicated Kidneys
• Small Cavum Septum
• Wide Sylvian Fissures with Incomplete Opercularization
• Enlarged White Matter
• Mildly Thin Corpus Callosum
• Asperger-Like Features
• No Language
• Many Cases Result from De Novo Mutations
• Hypermotor Automatisms
• Nocturnal Occurrence Usually during Light Sleep
• Frontal Lobe Origin
• Focal Partial Motor Seizures
• Centrally Located Nuclei Seen on Muscle Biopsy
• Myotonia Seen on EMG
• Mutation in the Connexin 26 Gene
• Eyelashes Sparse or Absent
• Sparse or Absent Eyebrows
• Hairs Can Be Painlessly Plucked with Little Force
• Fine Scalp Hair
• Thin, Flat Fingernail Plates
• Mutation in the INVS Gene
• Onset of Proteinuria in the Second to Fourth Decades
• Mutation in the FN1 Gene
• Recessive Inheritance Has Been Reported
• Mutation in the FASL Gene
• Mutation in the Fas Antigen Gene
• Increased Risk of Malignant Lymphoma
• Some Familial Occurrence most De Novo Aberrations
• Restrictive Physiology
• Low Incidence of Plexiform Neurofibromas
• Unidentified Bright Structures on Brain MRI
• Isolated Coloboma
• Bilateral Microphthalmia
• May Result in Sudden Death
• Mutation in the SCN5A Gene
• Junctional Escape - Ventricular Capture Bigeminy
• Conduction System Defects
• Systolic Function Reduced
• Some Patients Respond to Acetazolamide
• Mutation in the Solute Carrier Family 2 Member 1 Gene
• End-Stage Renal Failure in First or Second Decade
• Onset between First and Third Decade
• Mutation in the NPHS2 Gene
• Mesangial IgM Deposition
• Possible X-Linked Dominant Inheritance
• All Reported Patients Are Female
• Malformed Thoracic Vertebrae
• Malformed Ribs
• White Matter Alterations
• Mutation in the KRT1 Gene
• No Large Keratohyalin Granules
• No Aggregated Tonofilaments
• No Abnormal Keratohyalin Granules
• No Cytolysis
• Thick, Red, Edematous Skin over Joints of Hands and Feet
• Deep Fissures of Skin Creases
• Mutation in the SCARF2 Gene
• Intra- and Interfamilial Variability of Severity of Phenotype
• Cataracts Possibly Subclinical
• Ferritin Hyperglycosylation
• Ferritin L Subunit Elevated
• Transferrin Saturation Normal
• Congenital Nuclear Cataract
• Favorable Response to Ursodeoxycholic Acid Treatment