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Progressive Retinitis Pigmentosa Moderate to Severe Congenital Sensorineural Hearing Loss Early Age of Onset Immunoreactive Neuronal Alpha Synuclein and Glial Inclusions Diffuse Lewy Body Pathology Mutation in the Lamin AC Gene Kyphoscoliosis May Be Present Age at Onset: 28-42 Years Mutation in the DSPP Gene Progressive High Frequency Hearing Loss Asymmetric Cranial Vault Proboscis-Like Nares Midline Nasal Appendage Punctate, Yellow-White Sub-RPE Lesions and Subnormal Focal ERG Retinopathy May Resemble Retinitis Pigmentosa Punctate Yellow-White Sub-Retinal Pigment Epithelium Lesions Night Blindness Beginning in the 6th Decade Cutis Verticis Gyrata Onset at Age 6-10 Years Diffuse Hyporeflexia Pyramidal Tract Involvement Brisk Knee Reflex (Early-On) Extensor Plantar Responses (Early On) High-Stepping Gait Seizures Easily Controlled by Medications Dyskinesia in Homozygotes Reported in One Case Average Onset 6 Months Particulate Debris in Vitreous White Painless Eye Symptoms Often Improve Gradually with Age Type 2 Fiber Atrophy (Muscle Biopsy) Slow Recovery Miniature Endplate Potentials Decreased Generalized Hypotonia due to Neuromuscular Junction Defect Elevated Bilirubin (Bilirubinemia) Elevated Plasma Galactose (Galactosemia) Plasma Methionine Elevated - Methioninemia Citrulline Elevated (Citrullinemia) Allelic Disorder to Autosomal Recessive Inclusion Body Myopathy Type 2 Wheelchair Bound, in Average 12 Years after Onset Mutation in the GNE Gene Inflammatory Cells Absent Congophilic Amyloid Material Deposits Immunoreactive to Beta-Amyloid Protein Tubulofilamentous Nuclear or Cytoplasmic Inclusions Rimmed Vacuoles (Biopsy) Quadriceps Muscle Spared Tibialis Anterior Muscle Affected Hamstring Muscle Affected Fishy Body Odor Caused by Mutation in the Dimethylglycine Dehydrogenase Gene Dimethylglycine Dehydrogenase Deficiency Urine N,N-Dimethylglycine Elevated N,N-Dimethylglycine Increased Mutation in the AMT Gene Mutation in the Glycine Dehydrogenase Gene CSF/Plasma Glycine Ratio Elevated Hepatic Glycine Cleavage Defect Expressive Speech Deficit Burst Suppression Pattern on Neonatal EEG Hyporeflexia to Hyperreflexia Absent Corpus Callosum Mutation in the PTEN-Induced Putative Kinase 1 Gene Dementia (5%) Autonomic Instability Sleep Benefit Postural Instability (63%) Dystonia at Onset Asymmetry at Onset High Frequency in the French Canadian Population Caused by Mutations in the Senataxin Gene (SETX) Absence of Sensory Action Potentials Distal Vibration Sensation Impaired Progressive Limb Ataxia Dermatitis Acidemica Carnitine Decreased 3-Methylcitric Acid Elevated 3-Hydroxypropionic Acid Elevated Propionate Elevated Trunk Hypotonia Urine Oligosaccharides Abnormal Glucosidase I Deficiency in Liver and Fibroblasts Long Lashes Prominent Occiput Wet, Gurgling, Hoarse Voice Hypophonic Breathy Voice Vocal Cord Weakness Onset of Weakness in Hands and Feet Earlier Onset Associated with Increased Severity Sloping Shoulders due to Muscle Atrophy Intercostal Muscle Involvement Manual Dexterity Impaired Wasting of Hand Muscles is Often an Early Symptom Mean Age of Onset 22 Years Percussion-Induced Rapid Rolling Muscle Contractions Muscle Activity is Electrically Silent on EMG Mental Development Worsens after Onset of Seizures 20-30 Degree Extension Deficit of Knees and Elbows Narrowing of the Frontal Part of the Skull Prominent Upper Central Incisors