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Pathogenic Alleles Have 19 to 33 Repeats 4-18 Repeats in Normal Alleles Selective Loss of Cerebellar Purkinje Cells Mutation in the Erythrocytic Protein 4.2 Gene Mutation in the Spectrin Beta 1 Gene Caused by Mutation in the Ankyrin 1 Gene Caused by Mutation in the Spastin Gene Contiguous Gene Deletion Syndrome Caused by Deletion of 17p11.2 Mutation in the Retinoic Acid Induced Gene 1 Interstitial Deletion of 17p11.2 Decremental CMAP Response to Repetitive Nerve Stimulation Distal Muscle Weakness May Also Occur Motor Milestones Delayed De Novo Mutation Resulting in Haploinsufficiency of EFTUD2 Hypoplasia of the Upper Part of the Helix Buccal Tags Decreased Activity of Mitochondrial Complexes I, III, and IV Mutation in the KIF1A Gene Absence of Eosinophilia in Other Intestinal Segments Thickening of Basal Epithelial Layer and Elongation of Papillae Food Impaction Mean Age at Onset 30.7 Years Caused by Mutation in the Prodynorphin Gene Mixed Axonal Polyneuropathy Demyelination of the Posterior and Lateral Columns of the Spinal Cord Thinning of the Cerebellopontine Tracts Neuronal Loss in the Inferior Olives Neuronal Loss in the Dentate Nuclei Neuronal Loss in the Purkinje Cell Layer of the Cerebellar Vermis Cortical and Subcortical Atrophy Mild Cognitive Decline Low Impact Fractures Optic Nerve Hypoplasia or Agenesis Unilateral or Bilateral Anophthalmia Unilateral or Bilateral Microphthalmia Pituitary Hormone Deficiencies Pituitary Hypoplasia Subtle Facial Phenotype Compared to other Types of HPE High Occurrence of De Novo Mutations Mutation in the ZIC2 Gene Short Nose with Anteverted Nares (73%) Upslanting Palpebral Fissures (97%) Large Ears (37%) Broad, Deep Philtrum (43%) Bitemporal Narrowing Structural Inner Ear Abnormalities Vestibular Anomalies Mephenytoin Hydroxylation Defect Hydantoin Toxicity Mutation in the Cytochrome P450 Subfamily IIc Gene Majority of Cases Are due to De Novo Mutation Obesity after Puberty Distinct from Pseudopili Annulati Fragility of Hair Usually Not Increased Reflected Light Shows Bright and Dark Bands Hair Is Not Twisted Hair Shows Normal and Constant Diameter Along Shaft Bands Are due to Air Spaces in Cortex of Hair Favorable Response to Sodium Chloride Treatment Some Patients May Be Clinically Asymptomatic Renal Aldosterone Resistance Bird-Like Face Sleep Disorder with Severe Insomnia (in Adulthood) Cognitive Decline in Adulthood Development of Tumours in Adulthood Arteriovenous Malformations Can Occur Throughout the Body Redundant Mitral Valve Leaflets Risk of Gastrointestinal Cancer Increased Somatic Mutation in the GNAS1 Gene Large Cafe Au Lait Spots with Irregular Margins Mutation in the PKD2 Gene Slender Upper Lip Upward or Downward Slanting Palpebral Fissures Highly Variable Expression Mutation in the Peptidase D Gene Pruritic, Eczematous Lesions Impetigo-Like Eruptions Glycosylation of Alpha Dystroglycan Decreased Highly Variable Organ Involvement and Severity Early Onset Has Rarely Been Reported Late-Onset Dysphonia Progressive Hearing Loss Subsarcolemmal Accumulations of Abnormally Shaped Mitochondria Axonal Sensory Neuropathy Gait Difficulties (Late Onset) Fatal Subacute Encephalopathy Has Been Reported in One Family Earlier Onset Associated with Greater Severity Scoliosis - in Those with Early Onset Contractures (in Those with Early Onset) Absent Nerve Conduction Velocities Fatal Subacute Encephalopathy Death within First Months or Years of Life Fulminant Hepatic Failure (in 2 Sibs) Misaligned Teeth Hooded Eyelids Frontoparietal Pachygyria Lower Limb Hyperreflexia Pathogenic Alleles Contain 71-1,300 Repeats Normal Alleles Contain 15-50 Repeats Cortical Dysplasia