35601 to 35700 most common queries

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

• Slow Functional Deterioration despite Severe MRI Findings
• Caused by Mutation in the MLC1 Gene (MLC1)
• Vacuolizing Myelinopathy
• Large Subcortical Cysts in Frontal and Temporal Lobes
• Distinct Disorder from Marinesco Sjogren Syndrome
• Prevalent in Bulgarian Gypsies
• Neuropathy Becomes Apparent in Childhood
• Bimaxillary Dentoalveolar Protrusion
• Thickening of Perioral Tissues
• Malar Hyperplasia
• Axonal Degeneration in Older Patients
• Nerve Biopsy Shows Hypomyelination
• Upper Limb Motor Neuropathy Occurs Later
• Motor Neuropathy Beginning in Lower Limbs
• Occurs in the Absence of Trauma
• A Subset of Patients Have Hearing Loss
• Facial Muscle Weakness of Muscles Innervated by CN VII
• Mutation in the KIF5A Gene
• Upper Limb Sensory Loss May Occur Later
• Upper Limb Weakness May Occur Later
• Mutations in the SLC4A4 Gene
• Red Cell Osmotic Resistance Increased
• Normal Distal Tubule Acid Excretion
• Bicarbonate Wasting Renal Tubular Acidosis
• Onset between Age 30-50 Years
• Mutations in the Ceruloplasmin Gene
• Ceruloplasmin Decreased or Absent
• Two Loci Described: EEC1 and EEC3
• Heterogeneous Disorder
• Caused by Mutation in the Tumor Protein P63 Gene
• Sparse to Absent Axillary and Pubic Hair
• Fair Skin
• Absent Stensen Duct
• Lacrimal Duct Abnormalities
• Laterally Displaced Hair Whorl
• Vertically Inserted Eyelashes
• Long Flat Philtrum
• Overriding Scrotum
• Death Usually Occurs by 12 Months of Life
• Onset within First 3 Months of Life
• Ventilator Dependence with Inability to Wean
• Intrauterine Growth Retardation (Less Than 10th Percentile)
• Membranous Diaphragm
• Thin Diaphragm
• Eventration of the Right or Both Hemidiaphragms
• Excessive Sweating due to Autonomic Involvement
• Pain Perception Decreased
• Small Myelinated Fibers
• Axonal Degeneration (Nerve Biopsy)
• Slow Motor Nerve Conduction Velocity
• Upper Limb Weakness and Atrophy Occurs Later
• Childhood Onset Has Been Reported
• Adult Onset Reported
• Onset Usually in Early Adolescence
• Learning Disability (Early in Life)
• Knee and Ankle Clonus
• Loss of Ambulation within 10 Years of Onset
• Stiffness While Walking
• Onset of Insulin Resistance Possibly in Childhood
• Onset of Major Clinical Features in Young Adulthood
• Mutation in the PPARG Gene
• Prominent Musculature
• Facial and Neck Adipose Tissue Normal or Decreased
• Normal or Increased Abdominal Adipose Tissue
• Some Subcutaneous Adipose Tissue May Remain on Upper Arms
• Loss of Subcutaneous Adipose Tissue from Gluteal Region
• Normal Adipose Tissue around Neck
• Normal or Decreased Facial Adipose Tissue
• Increased Frequency in Finland
• Onset at 6-9 Months
• Normal in Neonatal Period
• Mutations in the SLC17A5 Gene
• Height 2 SD below Expected Height
• Mutation in the SCO2 Gene
• Muscle Biopsy Shows Decreased Activity of Cytochrome C Oxidase
• Limited Extraocular Movement
• No Hematuria
• Basement Membrane Altered
• Renal Tubular Cell Atrophy
• Corticomedullary Cysts
• Median Age at Onset of Renal Failure: 19 Years
• Onset of Acne in Adolescence - Persists Into Adulthood
• Onset of Arthritis in Early Childhood
• Sterile Abscesses at Site of Parenteral Injection
• Severe Cystic Acne
• Normocytic Pancytopenia Following Sulfa Use
• Onset in Third or Fourth Decades
• Thrombopoietin Increased
• Severe Thrombocytopenia (Birth)
• Normal Radii
• Caused by Mutation in the Set-Binding Factor-2 Gene
• Glaucoma May Precede Development of Neuropathy
• Early-Onset Open-Angle Glaucoma
• Abnormal Myelin-Folding: Globular Masses of Irregular Myelin
• Loss of Myelinated Fibers
• Onion Bulb Formations (Nerve Biopsy)
• Motor Nerve Conduction Velocity Decreased (15-30 m/s)
• CSF Protein Content Increased or at Upper Limit of Normal
• Severe Distal Sensory Impairment
• Life Expectancy Reduced