40201 to 40300 most common queries

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

• Hypertrophic Cardiomyocytes (Biopsy)
• V5
• Mandibular Bone Density Increased
• Highly Penetrant, Low Morbidity
• Gram-Negative Bacillus
• Onset of Visual Loss in the First Decade
• Unusual Upper Limb Position (Elbow and Wrist Flexion)
• Mostly due to Mutation in the PHOX2B Gene
• Mutation in the KAT8 Regulatory NSL Complex Subunit 1 Gene
• Smaller Repeat Lengths in Younger Generations
• Recurrent Enteritis
• Decreased Serum 18-OHB
• Axonal Swelling of Spinal Nerve Roots and Cranial Nerves
• Male-Limited Trait
• Decreased Contractility
• V4
• Urine Hyaluronic Acid Increased
• Pronounced Eyebrows
• Mitochondrial Respiratory Activities Decreased
• Calvarial Density Increased
• Early Onset in Some Patients
• No Congenital Form
• Some Patients Have Later Onset of the Disorder as Young Adults
• Ratio of Corticosterone : 18-Hydroxycorticosterone Increased
• Inability to Recognize Someone Familiar by the Face Alone
• Upper Limb Rhizomelia
• Support Standing or Walking Ability by 4-6 Years of Age
• Feeding Problems Necessitating Tube Feeding
• Echocardiogram Normal
• LAMP2 Protein Severely Decreased or Absent
• Caused by a 1 75 Mb Deletion at 15Q24
• Hypoplasia of Bony Condyles of Knees
• V3
• Structural Abnormalities Seen on Chromosome Analysis
• Mitochondrial Vacuolization Seen on Muscle Biopsy
• Caused by Mutation in the Cardiac Muscle Alpha Actin 1 Gene
• Mandible Elongated
• Death by Age 5
• Worsening of Symptoms during Sleep
• Three Families Have Been Reported (last Curated: August 2012)
• Frontal Balding, Male Pattern Baldness
• Variable Expressivity, Patients Possibly Clinically Asymptomatic
• Ischemic Changes
• Ridged Metopic Suture
• Medially Broad Eyebrows that Taper Laterally
• Athetoid and Dystonic Hand Movements
• V2
• Vacuoles Are Autophagocytic
• Mild Joint Restrictions of Fingers
• Septal Bulge of Left Ventricular Outflow Tract
• Malaligned Elbows and Wrists
• Muscle Biopsy Shows Disorganized Myofilaments
• Resistance of Bone to Fractures
• Average Age of Onset 6 Months
• Decreased Serum IgG and IgM
• Cortisol Does Not Decrease on Dexamethasone Suppression Test
• Saccadic Ocular Pursuit
• Mutation in the ASCL1 Gene
• Abnormal Insertion of the Toes
• V1
• Arm Pain
• Severe Gastroesophageal Reflux
• Allelic to Bardet-Biedl Syndrome Type 6
• Intrathoracic Duodenal Bulb
• Variable Extent of Hypertrophy in Mutation Carriers
• Sensitivity to Genotoxic Agents
• Noncompaction of the Heart
• Flattened Forehead (Adolescence)
• Mutations in the GFAP Gene
• Sarcomere Disappearance Seen on Muscle Biopsy
• No Progression to Cancer
• Mutation in the EDN3 Gene
• Lower Limb Muscle Weakness
• Mesomorph
• aVF
• Angulated Atrophic Muscle Fibers
• Variable Digital Abnormalities
• Mild Clavicular Sclerosis
• Early-Onset Hepatocellular Carcinoma
• Mutation in the Hereditary Hemochromatosis Gene
• Intrathoracic Gastric Volvulus
• Age at Onset: 43-64 Years
• Small Angulated Muscle Fibers Seen on Muscle Biopsy
• Glial Fibrillary Acidic Protein in Astrocytes
• Small 3rd and 4th Metacarpals
• Mutation in the PHOX2B Gene
• Mutation in the Cysteine and Glycine Rich Protein 3 Gene
• Double Superior Vena Cava
• Deep Finger Muscle Weakness
• aVL
• Mild Distal Peripheral Sensory Loss
• Hypogonadotropic Hypogonadism
• Presence of Rosenthal Fibers in Astrocytes
• Upper Back Pain
• Deep Sensory Impairment Mild to Moderate
• Small Fronto-Temporal Diameter
• Duplication or Triplication of Phalanges
• Broad Femoral Heads and Necks
• aVR
• Tumors of the Sympathetic Nervous System