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25101 to 25200 most common queries

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Regularly Spaced Holes in Granular Layer Amounts of Keratohyalin Increased Marked Desquamation of Upper Loosely Packed Scales Thick Cornified Layer Squamous Pityriasiform Appearance of Scalp Fine, Greyish-White Scales Generalized Ichthyosis Including Flexures Mild Alopecia Mild Perivascular Lymphocytic Infiltrates Thick Orthohyperkeratosis Palmoplantar Hyperlinearity Generalized Fine Erythrodermic Scales End-Stage Renal Failure Not in All Patients Some Patients Respond to Immunosuppressive Agents Onset Usually in the First Decade Mutation in the DGKE Gene Complement Levels Normal End-Stage Renal Failure Swelling of Endothelial Cells Subendothelial Deposits Patchy Deposition of IgG and IgM Focal Capillary Obliteration Splitting of the Basement Membrane Subcortical Atrophy Impaired Executive Function Onset at Age 3-7 Months Inability to Hold Head Onset in Childhood Mutation in the Potassium Channel Subfamily T Member 1 Gene Nocturnal Occurrence Bone Spicules Variable Features Present Clinodactyly 5th Finger Partial Preaxial Polydactyly Narrow Nares Nasolacrimal Duct Obstruction due to Ectropion of Lower Eyelids Mild Sensorineural Hearing Loss Protruding Ears Increased Posterior Angulation Retrognathia Trigonocephaly Right-Sided Spleen Left Sided Liver Situs Inversus Totalis Right Hemidiaphragm Elevated Developmental Delay - Variable Severity Oral Contraceptives May Also Cause Symptoms 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 Poor Eye Contact 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 Lactate Increased Mutation in the FARS2 Gene Coarse Retinal Pigmentation Increased Glycogen Content Enlarged Hepatocytes Microcystic Degeneration Pyramidal Cells Decreased Cortical Degeneration T2 Weighted Hyperintensities in the Basal Ganglia Diffuse Cerebral Atrophy Seen on MRI Mutation in the OTOG Gene Vestibular Hyporeflexia Flat or Shallow U-Shaped Audiogram Deafness Nonprogressive Moderate Mutation in the Otogelin-Like Protein Gene Vestibular Hypofunction 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 Papillomatous Hyperplasia Stratum Spinosum Thickened Stratum Granulosum Increased Large and Cup-Like Keratin Plugs