21001 to 21100 most common queries

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

• Left Sided Liver
• Developmental Delay - Variable Severity
• Mutation in the TMEM231 Gene
• MRI Scan showing Molar Tooth Sign
• Poor Fixation and Following
• Lack of Gonadal Tissue
• Cerebellar Neuronal Loss
• Lack of Ependymal Cells
• Rudimentary White Matter
• Functional Anorchia
• Arthrogryposis
• Poor Visual Tracking
• Cortical Visual Impairment
• Dysmorphic Features
• Cerebral White Matter Decreased
• Relative Preservation of the Cerebellar Folia
• Brain MRI Shows Cerebellar Hypoplasia
• Involuntary, Repetitive Movements
• Spasticity Usually of the Lower Limbs
• Lack of Independent Walking
• Normal Development until Onset of Seizures
• Seizures Become Nearly Continuous
• Onset of Seizures at Age <6 Months
• Neuronal Loss in the Hippocampus
• Delayed Myelination Seen on MRI
• Migrating Focal Discharges from One Cortical Region to Another
• Autonomic Manifestations
• Psychomotor Regression Severe
• Mitochondrial Translation Impaired
• Mutation in the FARS2 Gene
• Coarse Retinal Pigmentation
• Increased Glycogen Content
• Pyramidal Cells Decreased
• Cortical Degeneration
• T2 Weighted Hyperintensities in the Basal Ganglia
• Diffuse Cerebral Atrophy Seen on MRI
• Mutation in the OTOG Gene
• Flat or Shallow U-Shaped Audiogram
• Deafness Nonprogressive Moderate
• Mutation in the Otogelin-Like Protein Gene
• Older Patients Become Wheelchair Dependent
• Adult-Onset (2nd to 7th Decade)
• Late-Onset Mild Cerebellar Ataxia
• Frequent Falls with Preservation of Consciousness
• Cortical Multifocal Myoclonus
• Stratum Spinosum Thickened
• Stratum Granulosum Increased
• Large and Cup-Like Keratin Plugs
• Lack of Ciliary Motility
• Absent Inner and Outer Dynein Arms in Respiratory Cells (EM)
• Mutation in the Polyribonucleotide Nucleotidyltransferase 1 Gene
• Static Nonprogressive Disorder
• Onset at Age 6-9 Months after Normal Early Development
• Deficiencies of Mitochondrial Complexes III and IV in Liver
• Muscle Biopsy Shows Peripheral Accumulation of Abnormal Mitochondria
• Severe Global Hypotonia
• Encephalomyopathy
• Mutation in the HOXC13 Gene
• Hair Can Be Painlessly Plucked without Force
• Sparse, Curly Hair on the Scalp at 5 Years of Age
• Total Alopecia at Birth
• Koilonychia of Fingernails and Toenails
• Fine Eyelashes
• Fine Eyebrows
• Mutation in the Histidyl tRNA Synthetase 2 Gene
• Two Main Phenotypes: Severe and Mild
• Caused by Mutation in the Glutamyl tRNA Synthetase 2 Gene
• Interventricular Septal Hypertrophy
• Intermittent Abnormal Liver Enzymes
• Mild Fibrosis
• Macrovesicular Steatosis
• Mitochondrial Respiration Impaired
• Activities of Mitochondrial Complexes I, III and IV Decreased
• Muscle Biopsy Shows Cytochrome C Oxidase Negative Fibers
• Swelling of the Cerebral White Matter
• MRI Shows Swelling of the Deep White Matter
• Lack of Speech
• Lack of Head or Postural Control
• Delayed Psychomotor Development
• Deficiency of Mitochondrial Respiratory Enzymes I, III, and IV
• Little Spontaneous Limb Movement
• Monosialo- and Trisialotransferrin Increased (Type 1/2 Pattern)
• Onset within the First Decade of Life
• Mutation in the CALM1 Gene
• Prominent U-Waves in Anterior Leads
• Patients Have a Distinctive Shallow U-Shaped Audiogram
• Mutation in the CABP2 Gene
• Normal Middle Ear Pressures on Tympanometry
• Normal Static Compliance on Tympanometry
• Stable Bilateral Symmetric Prelingual Deafness
• Onset in First 2 Years of Life
• Mutation in the Vacuolar Protein Sorting-Associated Protein 37A Gene
• Mild to Moderate Cognitive Impairment
• Unsteady Standing
• Phenotypic Variability due to Oligogenic Inheritance
• Susceptibility due to Mutation in the SEMA3A Gene
• Hyposmia or Anosmia
• LH and FSH Low to Normal
• Deafness Congenital Sensorineural Severe to Profound
• Variable Age at Onset