29501 to 29600 most common queries

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

• Poor Ossification of Pubis
• 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