Sitemap | Symptoma 36501 to 36600 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Bilateral Schizencephaly Profound Psychomotor Retardation Number of Natural Killer Cells Reduced Head Circumference below the Third Percentile <3rd Percentile Mental Retardation of Variable Severity Protruding Abdomen Isolated Absence of Pain Sensation Low Posterior Hair Line Chromosome Inversion inv2(p12q14) in 2 Patients Metopic Ridging Weight in Childhood < 5th Percentile Height in Childhood <5th Percentile Focal Pachygyria Isovalerylglycinuria Isovalericaciduria Feeding Refusal, Especially Aversion to Protein Death in Childhood Secondary to Malabsorption Mutation in the UBR1 Gene 'Unruly' Scalp Hair Extension of Lateral Hairline onto Forehead Blonde, Sparse Scalp Hair Hypoplasia of Primary Teeth Cutaneolacrimal Fistulae Cystic Dilatation of Cochlea and Vestibulum Absent Areolae No Light-Evoked Response on Electroretinogram Vision Impairment from Infancy End-Stage Renal Disease Develops in Childhood Thickened Tubular Basement Membrane Brain Stem Dysplasia Hypoplasia or Aplasia of Cerebellar Vermis Immotile Sperm Corneal Abnormality Poorly Aerated Mastoids Severe Constipation Magnesium Low to Low-Normal Internal Cortical Thickening Medullary Stenosis of Tubular Bones Absent Diploic Space Broad Cheeks Anterior Fontanelle Closure Delayed Fetus Small for Gestational Age Birth Length < 3rd Percentile Premature Tooth Loss (Both Primary and Secondary Dentition) Dural and Choroid Plexus Calcifications Mutation in the Cathepsin C Gene Claw-Like Volar Curve Tapered Pointed Distal Phalanges Premature Tooth Alveolar Bone Destruction Severe Early Onset Periodontitis Cartilaginous Ossification of Trachea and Bronchi Mild Interdigital Webbing Variable Shortening of Terminal Phalanges - Brachytelephalangy Epiphyseal Stippling in Infancy Abnormal Cartilage Ossification Small Alae Nasi Progressive Cartilaginous Ossification of Pinnae Pale Stiff Pinnae Mild Midface Hypoplasia Risk of Spontaneous Abortion Increased Stature below 25th Percentile Ossification of Rib Cartilage Abnormal Flash Visual Evoked Potentials Abnormal Brainstem Auditory Evoked Potentials Loss of Myelin and Oligodendroglia Diffuse Cerebral Atrophy on CT and MRI Hypotonia in Later Stages Hyperactive Deep Tendon Reflexes (Early Stage) Hypersensitive to Stimuli Symptoms Not Apparent at Rest Mildly Progressive Mild Phenotype Mutations in the SLC16A1 Gene Lactate Clearance from Muscle after Exercise Decreased Symptoms May Be Induced by Heat Exercise-Induced Muscle Fatigue Muscle Cramps with Exercise Lactic Acidosis May Be Mild Mutation in the DLAT Gene E2 Subunit (PDH) Protein Decreased Activity of the E2 Subunit of the PDH Decreased Serum and Cerebrospinal Fluid Lactate May Be Increased Failure of Saccade Initiation MRI Shows Globus Pallidus Signal Abnormalities Jerky Head Movements Patients May or May Not Have Dysmorphic Features Phenotypic Similarities to Leigh Syndrome Component X Protein of the PDH Complex Decreased Frontal Metopic Ridge Basal Ganglia Lucencies Poor Fine and Gross Motor Coordination Pyramidal Hypertonia Equinovalgus Small Face No Polydactyly No Obesity Mutations in the Lecithin:Cholesterol Acyltransferase Gene Foam Cells in Bone Marrow and Renal Glomeruli
