33401 to 33500 most common queries

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

• Cerebrospinal Fluid Pyridoxal 5'-Phosphate Decreased
• Cerebrospinal Fluid Pyridoxal Decreased
• Cerebrospinal Fluid Arginine Decreased
• Cerebrospinal Fluid Histidine Increased
• Cerebrospinal Fluid Taurine Increased
• Increased CSF Threonine
• Cerebrospinal Fluid 3-Methoxytyrosine Increased
• Urine Vanillactic Acid Increased
• Plasma Arginine Decreased
• Plasma Threonine Normal to Increased
• Plasma Glycine Normal to Increased
• Response to Pyridoxal Phosphate
• Partial Response to Pyridoxine
• Neonatal Epileptic Encephalopathy
• Thick, Maloriented Superior Cerebellar Peduncles
• Mutation in the CEP290 Gene
• No Cerebellar Vermis Aplasia or Hypoplasia
• Anomalous Origin of Right Pulmonary Artery
• Diabetes Mellitus Type 1 Developed in Some Patients
• 2:1 Female Preponderance
• Adult Onset Punctate Cortical Cataract
• Congenital Cataract (Nuclear, Sutural, or Stellate Cortical)
• Phenotype May or May Not Be Consistent within a Family
• Mutation in the Fukutin Gene
• Homozygosity: More Severe Phenotype
• Autosomal Recessive Inheritance Can Occur
• One Third of Cases Are Familial
• Benign Tumors of the Eye, Heart, and Lungs
• Cortical Tubers
• Subependymal Nodules
• Hamartomatous Lesions of the Brain
• Short, Dysplastic Ulnae
• Short Dysplastic Radii
• Severe Radial Bowing
• Severe Mesomelia - Only Arms
• Aberrant Origin of Vertebral Artery
• Rudimentary to Absent Tibia
• Irregular, Thin Ribs
• Single Fallopian Tube
• Mutation in the Ras Associated Protein RAB23 Gene
• Fingerprint Profiles (Ultrastructural Analysis)
• Caused by Mutation in the CLN2 Gene
• Mutation in the R Spondin Family Member 4 Gene
• Onset in Neonatal Period or Infancy
• Possibly Phosphate and Calcitriol Increased (Heterozygotes)
• Mutation in the GALNT3 Gene
• Renal Tubular Phosphate Reabsorption Increased
• FGF23 Increased
• 1,25-Dihydroxycholecalciferol - Calcitriol - Normal to Elevated
• Progressive Deposition of Basic Calcium Phosphate Crystals
• Ectopic Painful Periarticular Calcified Masses
• Swirled Radicular Dentin Deposits
• Short Blunt Tooth Roots
• Disturbed Root Development
• Obliterated Tooth Pulp Cavities
• Conjunctival Whitish Salt-Like Deposits
• Calcinosis of the Renal Parenchyma
• Renal Tubular Phosphate Excretion Decreased
• Profound Sensorineural Deafness
• Environmental Triggers - Cold and Wet Exposure
• No Raynaud Phenomenon
• Subungual Lesions
• No Cutaneous Photosensitivity
• Healed Areas Are Atrophic and Hypopigmented
• Painful Bluish-Red Papules or Nodules
• Present in Jewish Yemenite Population
• Mutation in the Sterile Alpha Motif Domain Containing Protein 9 Gene
• Massive Calcium Deposition in Mid and Lower Dermis
• Calcified, Ulcerating Nodules
• Erythematous Papular Skin Eruption
• Myelosuppression Develops on Standard Doses of Thiopurine Drugs
• Decreased Metabolism of Thiopurine Drugs
• Activity of Thiopurine-S-Methyltransferase Decreased
• Mutation in the Phosphodiesterase 11A Gene
• Fibrofatty Replacement of Right Ventricular Myocardium
• Possibly Mild Manifestations of Cushing Syndrome
• Onset in Childhood or Young Adulthood
• Mutation in the PRKAR1A Gene
• Adrenal Glands Normal, Atrophic, or Slightly Enlarged
• ACTH-Independent Hypercortisolemia
• Mutation in the Mitochondrial Ribosomal Protein S16
• Choreoretinal Coloboma
• Abnormal Toenails
• Slender Ulnae
• Pouty Lower Lip
• Height Less than 5th Percentile
• Overriding of the First Toe
• EMG Shows Denervation
• Progressive Distal and Proximal Symmetric Limb Weakness
• Protruding Fissured Tongue
• Hallucinatory Psychosis Develops during Adolescence
• Motor and Sensory Nerve Conduction Velocities Decreased
• Hypomyelinated Fibers
• Axon Degeneration and Regeneration
• Sural Nerve Biopsy Shows Absence of Large Myelinated Fibers
• Severe Peripheral Sensory Neuropathy
• Severe Peripheral Motor Neuropathy
• Axonal Swelling of Spinal Nerve Roots and Cranial Nerves
• Support Standing or Walking Ability by 4-6 Years of Age
• Variable Expressivity, Patients Possibly Clinically Asymptomatic