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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