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