38801 to 38900 most common queries

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

• Absent Facial, Axillary, Body Hair
• Severe Hypomyelination (Nerve Biopsy)
• Neurologic Involvement Not in All Cases
• Receding Anterior Hairline
• Dental Crowding
• Disproportionate Short-Limbed Short Stature
• Bilateral Contractures of Toes - More Severe on Right Side
• Average Disease Duration of 7 Years
• Mild Frontonasal Hyperplasia in Adult
• Drug-induced Hyperglycemia
• Shortened Ribs
• Frequency in Individuals Originating from Western Scotland Increased
• Limb Deformations
• Contiguous Gene Deletion of Imprinted Region of 11p15.5
• Short Terminal Phalanges
• Variable Autonomic Dysfunction
• Rarely Onion-Bulb Formations (Nerve Biopsy)
• Mutation in the HAX1 Gene
• Posteriorly Rotated Ears in Females
• Widened Sclerotic Costochondral Joints
• Malocclusion Class 3
• Multiple Pigmented Moles
• Average Adult Height 125 cm
• Subcutaneous Fat Markedly Reduced
• Rapidly Progressive but Slower than Creutzfeldt Jakob Disease
• Cloacal Developmental Abnormalities
• Tumors Leave Pitting Scars
• Cystic Bone Lesions
• Arrested Retinal Development
• Contiguous Gene Duplication of Imprinted Region of 11p15.5
• Edema of the Hand
• Bipartite Trochlea
• Mutation in the Activation Induced Cytidine Deaminase Gene
• Hypodontia
• Soft Redundant Skin - Especially Facial
• Increased Risk of Myelodysplastic Syndrome
• Mutation in the PRNP Gene
• Micrognathia (Males and Females)
• Hypoplasia of the Posterior Corpus Callosum
• Delay of Gross Motor Function
• Postnatal-Onset Severely Short Stature
• Spontaneous Resolution of Tumors within Months
• Fatal without Bone Marrow Transplantation
• Disruption of the Basal Lamina (Skeletal Muscle Biopsy)
• Joint Contractures (Fingers, Hips, Knees)
• Mutation in the KCNQ1 Overlapping Transcript 1 Gene
• Normal to Mildly Delayed Development
• Defective Generation of Somatic Hypermutations
• Esotropia with Hypermetropia and Strabismus
• Small, Irregular Capital Femoral Epiphyses
• Recurrent Serous Otitis
• Microcephaly - Male and Female
• Mutation in the PIK3CD Gene
• Spinal Involvement Improves with Age
• Some Patients Have Periodic Wave Complexes
• Mild Congenital Hypotonia
• Thyroid Stimulating Hormone Decreased
• High EBV Viral Load
• Brain Vascular Anomalies
• Tumors Appear Most Often on Sun-Exposed Regions
• Mutation in the H19 Gene
• Giant Germinal Centers in Lymph Nodes
• Mild Bilateral Conductive Hearing Loss
• Centrally Located Liver
• COX-Depleted Fibers
• Short Deformed Femurs
• Short Iliac Wings
• Gallbladder Absent
• Hypouricemia
• Abscess Formation
• Hand Involvement Improves with Age
• Neurofibrillary Tangles May be Present
• Subcortical Heterotopia
• Disorder May Progress to Involve a Larger Body Area
• Duplication or Deletion at 11p15.5
• Mitochondrial Complex I Deficiency in Muscle
• Natural Killer T Cells Decreased
• IgM Normal to Elevated
• Bowed Limbs due to Multiple Fractures
• Mildly Disproportionate Short Stature
• Intrauterine Growth Retardation (Males)
• Caused by Mutation in the Thioredoxin Domain-Containing 3 Gene
• Anterior Tongue-Like Deformity
• No Cytolysis or Abnormal Keratohyalin Granules
• Insulin Increased
• Class-Switched Memory B Cells Decreased (CD19+CD27+IgD-)
• Leg Pain during Childhood
• Swelling of the Affected Areas
• Acentric or Irregular Corneal Video Keratography Shapes
• Amyloid-Like Plaques Not Immunoreactive to APP
• ITK Protein in Lymphoid Tissue Decreased
• Delayed Visual Evoked Potential
• IgA and IgG Decreased to Absent
• Onset in Childhood or Adolescence
• Blue Sclerae at Birth Becoming Normal with Age
• Warm and Engaging Personality
• Keratosis Pilaris of Arms and Legs
• Urine 17 Ketosteroids Decreased
• Electroretinogram Decreased
• Centrally Located Heart