32201 to 32300 most common queries

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

• Mild to Severe Mental Retardation (20%)
• Mutation in the Phenylalanine Hydroxylase Gene
• Maternal Teratogenic Hyperphenylalaninemia
• Defective Myelin Formation if Left Untreated
• Seizures - If Left Untreated
• Deep Tendon Reflexes Increased if Left Untreated
• Purposeless Movements (if Untreated)
• Abnormal Limb Posturing (if Untreated)
• Peculiar Gait (if Untreated)
• Infantile Irritability (if Untreated)
• Conical Crown Form
• Survival to 5 15 Years of Age
• Onset of Acanthosis Nigricans Correlates with Onset of Diabetes
• Mutation in the INSR Gene
• Lichenified Skin
• Fasting Hypoglycemia (early in Disease Course)
• Dental Dysplasia
• Large, Fissured Tongue
• Weight <5th Percentile
• Pineal Hypertrophy
• Bile Duct Dilation and Proliferation
• Absence of Renal Corticomedullary Differentiation
• Increased Echogenicity of Entire Parenchyma
• Mean Age at Diagnosis 16 Years
• Mutation in the VHL Gene
• Leukocyte and Platelet Counts Normal
• Increased Serum Plasminogen Activator Inhibitor 1 (PAI1-173360)
• Vascular Endothelial Growth Factor Increased
• Erythropoietin Increased (EPO)
• Short, Pointed Phalanges
• Fused Vertebrae - Cervical Thoracic Lumbar
• Small Lobes
• Allelic Disorder to Glycogen Storage Disease Type 4
• Onset after Age 40 Years
• Glycogen-Branching Enzyme Activity Decreased or Absent
• Polyglucosan Bodies in Neuronal and Astrocytic Processes
• Pyramidal Tetraparesis
• Mutation in the UROS Gene
• Mutilating Skin Deformity
• Pink Urine
• Uroporphyrinogen III Cosynthase Deficiency in Blood and Fibroblasts
• Red-Stained Teeth
• Porphyrin-Rich Gallstones
• Autosomal Recessive and Dominant Pedigrees Described
• Absence of Fifth Digit
• Rib Defects
• Caused by Mutations in the Peroxisomal Acyl-CoA-Oxidase Gene
• Plasmalogen Normal
• Absence of Flash Visual-Evoked Responses
• Flattened or Absent Electroretinogram
• Liver Biopsy Shows Normal Numbers of Enlarged Peroxisomes
• Diffuse Hepatic Steatosis
• White Matter Hypodensities and Demyelination
• Neurologic Regression after Age 2 Years
• Focal Interictal Epileptiform Discharges
• Multiple Pigmented Nevi
• Poorly Developed Palmar Creases
• Protruding Calcaneus
• Short 3rd 4th Toes
• Hypoplastic Thenar Hypothenar and Interdigital Eminences
• Single Flexion Crease Fingers 2, 3 and/or 5
• Darkly Colored Teeth (reddish-Brown)
• Absence of Sulcus Orbitopalpebralis Superior - Upper Eyelid Crease
• Birthweight < 10th Percentile
• Sex Ratio - 2.3 Males-to-1 Female
• Malsegmentation
• Medial Cleft Lip and Palate
• Cebocephaly
• Deep Scrotal Raphe
• Absent Olfactory Tracts and Bulbs
• Often Reared as Females until Puberty
• XY Karyotype
• Male Pubertal Voice Change
• Scanty Pubertal Beard
• 5 Alpha-Reductase 2 Enzyme Deficiency
• Cryptorchid Testes
• No Mullerian Structures
• Wolffian Differentiation
• Blind Perineal Pouch Resembling Vagina
• Testosterone Normal or Increased
• Defective DHT Formation
• Plasma Dihydrotestosterone Is Decreased
• No Breast Development or Menstruation at Puberty
• Masculinization at Puberty
• Clinical Onset within First 2 Years of Life
• 25-Hydroxyvitamin D3 Normal
• 1,25-Dihydroxyvitamin D3 Markedly Decreased or Absent
• See for Description of Heterozygous Phenotype
• Majority of Cases Diagnosed at Age 10-15 Years
• Mutations in the ABCC6 Gene
• Renovascular Hypertension
• Intermittent Claudication (30%)
• Calcifications
• Brown Macules in Reticulate Pattern
• Chronic Granulomatous Nodules
• Acneiform Lesions
• Extrusion of Calcium Deposits
• Lax, Wrinkled Skin
• Yellowish, Flat Plaques
• Progression of Skin Lesions