44401 to 44500 most common queries

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

• Centrifugal Shortening of Limbs
• Swelling of Retinal Nerve Fiber Layer in Acute Phase
• Hitchhiker Halluces
• Rhythmic Slowing Parietal Left
• Ventricular Arrhythmia (PVC, NSVT, and VT)
• Nasolacrimal Duct Obstruction due to Ectropion of Lower Eyelids
• Mutation in the GNAS Complex Locus Gene
• Prominent Full Lip
• Manifestations Present in Second Decade of Life
• B-Cell Count Increased
• Episodic Flaccidity
• Density of Long Bone Diaphyses Increased
• Mutation in the PTPRF Gene
• C Peptide Levels Low
• Autosomal Recessive
• Nerve Conduction Study showing Demyelination Pattern
• Spur-Like Projections at Mediolateral Aspect of Acetabula
• Tombstone-Shaped Proximal Phalanges
• Paroxysmal Activity - Sharp-Waves Frontal
• Lacunar Retinal Depigmentation
• Often Associated with Klippel-Feil Anomaly
• Number of Peripheral CD3+ T Cells Increased
• Mild Sensorineural Hearing Loss
• Urine PGE-M Relatively Low
• Mutation in the Thymidine Phosphorylase Gene
• Multiple Sclerosis-Like Illness
• Seizures, Possibly Refractory Seizures
• Pointed Upper Helix
• Low Iliac Wings
• Orthopoxvirus
• Chronic and Active Denervation (Muscle Biopsy)
• Club-Shaped Femora
• Autosomal Dominant
• Contractures of the Knees and Ankles
• Paroxysmal Activity - Sharp-Waves Central Right
• Hypermetropic Astigmatism
• Often Associated with Chiari Type 1 Malformation
• Caused by Mutations in the Mitochondrial ATP Synthase 6 Gene
• Chronic Non-Infectious Lymphadenopathy
• Protruding Ears
• mtDNA Depletion Seen on Muscle Biopsy
• Urine PGE2 Levels Elevated
• Mutation in the PCYT1A Gene
• Normal with Exception of Upper Lip Defect
• Caused by Mutations in Cartilage Oligomeric Matrix Protein
• Unilateral or Bilateral Hypoplasia or Aplasia of Nipples
• Club-Shaped Humeri with Early Proximal Epiphyseal Ossification
• A Subset of Patients Develop Frontotemporal Dementia
• Poxviridae
• Cortical Thickening and Acroosteolysis
• Wide Interpedicular Distance
• Slow Functional Deterioration despite Severe MRI Findings
• Often Associated with Syringomyelia
• Increased Posterior Angulation
• Muscle Mitochondria Normal by Histochemical Analysis
• Paroxysmal Activity - Spike-and-Slow-Wave Parietal Right
• KID Syndrome and HID Syndrome Are Identical at the Molecular Level
• Mutation in the Kinesin Family Member 11 Gene
• Selective Decrease in Small Myelinated Fibers (Sural Nerve Biopsy)
• Average Adult Height 109 to 152 cm
• One Patient Has Been Reported - Last Curated October 2014
• Extrapyramidal Symptoms May Occur
• Genu Valgum, Genu Varum and Genu Recurvatum
• Vertical Block-Like Ischia
• Hypoplastic Condyloid Process
• Eosinophils Decreased
• Caused by Mutation in the MLC1 Gene (MLC1)
• No Histochemical Evidence of Mitochondrial Myopathy
• Loss of Normal Tabulation of Metacarpals and Phalanges
• Base of the Skull Is Flattened on the Cervical Spine
• Lymphedema Hands
• Variable Involvement of Palms and Soles
• Short Poorly Developed Ribs
• Trigonocephaly
• Mutation in the Ribose 5-Phosphate Isomerase A Gene
• Paroxysmal Activity - Spike-and-Slow-Wave Parietal Bilateral
• Rounded Iliac Bones with Shortened Sacrosciatic Notches
• Mutation in the BBIP1 Gene
• Elbow and Hip Extension Limited
• Upper and Lower Motor Neuron Disease
• Incomplete Sinus Development
• Vacuolizing Myelinopathy
• Basophils Decreased
• Sclerosis of Distal Tibiofibular Joint
• Death Within First Year of Life in 25% of Patients
• Hypoplasia of Cervical Paravertebral Muscles
• Right-Sided Spleen
• Death Usually Occurs in First Decade of Life
• Cervical Spine Segmentation Defects
• Irregular Mushroomed Metaphyses
• Nystagmus on Lateral Gaze
• Normal Intelligence to Mild or Moderate Mental Retardation
• Early Onset Severe Renal Disease
• Death within 12 Months
• Atrophy of the Thigh Muscles
• Suppression Temporal
• Progressive Mixed Conductive and Sensorineural Hearing Loss
• Caused by Mutation in the Calsequestrin 2 Gene
• Large Subcortical Cysts in Frontal and Temporal Lobes
• Rapidly Progressive to Persistent Vegetative State or Death