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Hypoplasia of Iliac Wings Poor Mineralization of Skull 11 Rib Pairs in Some Male Patients Plasma and Secretory IgA Decreased Mild Cerebellar Atrophy Mutation in the UBE2A Gene Broad First Toe Myxedematous Appearance White Matter Hypodensities Lack of Speech or Poor Speech Normal Adrenal Function Fine Hair Protruding Upper Lip Thick Eyelids Hypotonia Progressing to Hypertonia Facial Dysmorphic Features Are Variable Onset of Neurologic Events at Age 4-35 Years Flared Nares Early-Onset Cataracts Testicular Volume Decreased Stroke-Like Symptoms Acute Neurologic Deficits due to Cerebrovascular Disease Normal-Appearing Male External Genitalia in 46,XX Individuals Impaired GlcNAc-PI Synthesis Mutation in the AIFM1 Gene Serum and CSF Pyruvate Increased Increased Fatty and Connective Tissue in Skeletal Muscle Ragged Red Fibers Mitochondrial DNA Depletion Seen on Skeletal Muscle Biopsy Sensory and Motor Axonal Polyneuropathy Brain MRI Shows Signal Abnormalities in the Basal Ganglia Psychomotor Regression - Onset within First Year of Life See Also Autosomal Form and Another X-Linked Form Mutation in the MAMLD1 Gene Optic Disc Pallor Optic Nerve Hypoplasia Progressive Microcephaly (from 3-5 to 10 SD) Simplified Gyration in the Frontal Cortex Proportionate Pontocerebellar Hypoplasia Most Never Acquire Independent Ambulation Males More Frequently Affected than Females Full Mutations with Expanded Trinucleotide Repeats >200 Result in Fragile X Syndrome Most Patients Have a Family History of Fragile X Syndrome 55-200 Expanded Trinucleotide Repeats in the FMR1 Gene Onset in Fifties or Sixties Trinucleotide Repeat Expansion in the FMR1 Gene Intracellular FMR Protein Decreased Intracellular FMRP mRNA Increased Decreased Distal Vibratory Sensation FMR1 mRNA-Positive Inclusions in Neurons and Astrocytes Increased T2 Signal Intensities in Middle Cerebellar Peduncles MRI Shows Generalized Atrophy Memory Defects Illegible Handwriting Fine Motor Skills Impaired Impaired Tandem Gait Possibly Neuropsychologic Impairment in Female Carriers Platelet Count Low Normal to Decreased IgA Decreased to Normal CD3- CD15+ CD16+ Natural Killer Cells Decreased Adrenal Crisis in Neonatal Period Bone Density Decreased Bowing of Upper Limb Absent or Hypoplastic Thumbs Mitral Valve Thickened Mega-Cisterna Magna Obstruction of Pulmonary Outflow Tract Caused by Mutation in the Filamin B Gene Usually Occurs in Young Adults Male to Female Ratio 3 : 1 Wedge-Shaped Necrosis from Epidermis through Dermis Avascular Patches on Conjunctiva and other Eye Regions Central Nervous System Infarctions Smooth, Round Collagen Fibrils Collagen Fibrils Dispersed in Reticular Dermis Thin Collagen Bundles Fine Collagen Fibers, Predominant in Reticular to Papillary Dermis Recurrent Subcutaneous Infections with Fistula Formation Fine to Acrogeria-Like Palmar Creases Hyperalgesia to Pressure Fragile Skin with Atrophic Scarring Progressive Talipes Valgus and Planus Talipes Equinovarus in Infancy Hypermobility of Small Joints Slender and/or Cylindrical Fingers Bilateral Thumb Adduction in Infancy Hypermobility of Shoulders Tendon Abnormalities Mild Osteopenia in Childhood Small Mouth in Infancy Short with Hypoplastic Columella Anterior Segment Anomalies Variable Eye Anomalies Low-Set and Rotated Ears Facial Asymmetry from Adolescence Protruding Jaw from Adolescence Microretrognathia in Infancy Large Fontanel with Delayed Closure Duodenal Obstruction due to Malrotation Diverticular Perforation