46001 to 46100 most common queries

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

• Abnormal Tracheal Cartilaginous Ring
• Increased T2 Signal Intensities in Middle Cerebellar Peduncles
• One Patient Has Been Reported
• Spinal Tract Degeneration
• Increased Hair Whorls
• Interstitial Connective Tissue Increased
• Mutation in the ADAM17 Gene
• Congenital Renal Failure
• Five Patients Reported (as of March 2009)
• Fusarium
• Absence or Hypoplastic Middle Phalanges
• Cutaneous Syndactyly of Toes
• Persistent Craniopharyngeal Canal
• UDP-Galactose-4-Epimerase Deficiency in All Cells
• 4-Hydroxyphenyllactic Aciduria
• Slight Corneal Clouding
• MRI Shows Generalized Atrophy
• Sacral Fusion
• Age of Onset 20-65 Years
• Small Type 1 Fibers
• Cuticle of Hair Markedly Damaged
• Hyperpigmented Lesions - 0.2-0.5 cm
• Clot Retraction Abnormal
• Clinodactyly of Fifth Fingers
• Arthralgia - Arthritis
• Bilateral Restrictive External Ophthalmoplegia
• Onset in the Perinatal Period
• Cirrhosis if Untreated
• Pseudotumor
• Memory Defects
• 4-Hydroxyphenylpyruvic Aciduria
• Mutation in the MOCS2 Gene
• Separation of Nostrils
• Posterior Rib Gap Defects
• Vestibuloocular Reflex Abnormal
• Mild Muscle Weakness
• Severe Weathering of Hair Shaft
• Impaired Coagulation due to Malnutrition
• Acetyl-CoA Carboxylase Activity Decreased
• Female to Male Ratio - 1 : 1
• Illegible Handwriting
• Mutation in the Uridine Diphosphate Glycosyltransferase 1 Gene
• Toe-Walking Gait
• Liver Function Progressively Decreased
• Persistent Primary Vitreous
• Caused by Mutation in the Molybdenum Cofactor Synthesis Gene 1
• Dyslipidemia
• 4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency
• Arthralgia - Arthritis - Hip
• Fusion of Cervical Vertebrae Most Often C2-3
• Sensory Neuropathy (Less Prominent Feature)
• Poor Growth due to Malnutrition
• Short or Broken Hair
• Urinary Excretion of 2-Ethyl-Hexanedioic Acid
• Highly Variable Phenotype - Ranging from Asymptomatic to Severe
• Possibly Greater Expressivity in Females
• See Also GLUT1DS2 - an Allelic Disorder with a Less Severe Phenotype
• Segmental Optic Nerve Hypoplasia
• Sulfite Oxidase Activity Decreased
• Ovarian Failure due to Hypergonadotropic Hypogonadism
• Liver Function Normal
• See CMT4A (214400) for Autosomal Recessive Demyelinating Forms
• Possibly Neuropsychologic Impairment in Female Carriers
• Hemiplegic Migraine in Some Patients
• Eating Problem
• Relatively Short Stature
• Encephalomalacia
• Frequent Paronychia due to Candida and Pseudomonas Infections
• Urinary Excretion of 2-Ethyl-3-Hydroxy-Hexanoic Acid
• No Recurrence of Dystrophy after Penetrating Keratoplasty
• Early Treatment Can Reduce Neurologic Symptoms
• Onset: Birth to Early Childhood
• Favorable Initial Response to Levodopa
• Corneal Dermoid Cyst
• Mental Retardation (if Untreated)
• Xanthine Dehydrogenase Activity Decreased
• High Prevalence in Holguin Province of Cuba
• Mutation in the SPTBN2 Gene
• Platelet Count Low Normal to Decreased
• Genetic Heterogeneity - See CMT1A CMT1C CMT1D CMT1F
• Absence of Focal Neurologic Signs
• Urinary Excretion of 2-Ethyl-3-Keto-Hexanoic Acid
• Bowed Short Femora
• Hyperthermia
• Treatment with BH4 is Effective
• Flattening of the Caudate Nucleus
• Patchy Vacuolization of Basal Layer
• Corneal Endothelial Guttata and Folds
• Short-Chain Acyl-CoA Dehydrogenase Activity Decreased
• May Manifest as 'Ataxic' Phenotype without Parkinsonian Features
• Persistent Falcine Venous Sinus
• Urine Taurine Increased
• IgA Decreased to Normal
• Gamma Glutamylcysteine Deficiency
• Long Ear
• Severe Brain Damage
• Caused by Mutation in the Suppression of Tumorigenicity 14 Gene
• Caused by Mutation in the Myelin Protein Zero Gene
• Ornithine Increased
• Defective Tetrahydrobiopterin Synthesis