41301 to 41400 most common queries

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

• Possibly Distal Muscle Weakness
• Urinary Excretion of Pyridinoline Normal
• COX-Deficient Fibers
• Severe Pruritus of Skin Lesions
• Episodic Axial Muscle Hyperextension
• Abnormally Folded Ears
• Exacerbation during Febrile Episodes
• Mutation in the Parathyroid Hormone Responsive B1 Gene
• Large Sella Turcica
• Motor Restlessness
• Increased Frequency in the Finnish Population
• Muscle Biopsy Shows Neurogenic Changes
• Homozygosity with More Severe Phenotype
• Dense Diaphyses
• Slowing - Delta Waves Occipital Bilaterally
• Absence of Hypertension
• Lesions in Basal Ganglia, Brainstem, Cerebellum, Thalamus, Spinal Cord
• Mutation in the ARL6 Gene
• Usually Fatal in First 2 Decades
• Onset of Ataxia and Neuropathy in Early Twenties
• Mutilating Keratoderma of Palms and Soles
• Aspartylglucosaminuria - Activity Little to Absent
• Dystrophic Fingernails and Toenails
• Congenital or Perinatal Onset
• Compulsive Behavior
• Slowing - Theta Waves Parietal Right
• Obliteration of Paranasal Sinuses and Mastoid
• Open Cranial Sutures
• Mean Age at Onset of End-Stage Renal Disease: 13 Years
• Lower Limbs Affected before Upper Limbs
• Caused by Mutation in the Chloride Channel 5 Gene
• Intermyofibrillar and Subsarcolemmal Glycogen Increased
• Perivascular Nerve Fiber Proliferation
• Caused by Mutation in the Nephrocystin 3 Gene
• Onset between Birth and 3 Months of Age
• Onset of Hearing Loss in Childhood
• Corticobasal Degeneration
• Midline Nasal Cleft
• Flattening and Anterior Beaking of Vertebral Bodies
• Alveolar Process - Broad Alveolar Margins
• Intermittent Slowing - Theta Waves
• Renal Biopsy Shows Focal Tubular Atrophy
• Reduced Bending Capacity of Cilia
• Akathisia
• Constricting Digital Bands
• Mutation in the NPHP1 Gene
• Reticulocyte Count Low to Normal
• Caused by Mutation in the Synapsin 1 Gene
• Swollen, Globular Body
• Mutation in the AGA Gene
• Crystal-Like Lens Opacity
• Coloboma of the Upper Eyelid
• Mild Anterior Rib Widening
• Neuronal Loss in the Striatum, Cerebral Cortex and Cerebellum
• Mutation in the Chromosome 10 Open Reading Frame 2 Gene
• Slowing - Delta Waves Temporal Right
• Lactate May Be Increased during Encephalopathic Exacerbations
• Caused by Mutations in the OCRL1 Gene (OCRL1)
• Variable T-Cell Dysfunction
• Squamous Cell Carcinoma in Area of Palmoplantar Keratoderma
• Associated with Mutation in the Neuroligin 3 Gene
• Mutation in the KIF7 Gene
• Mutation in the Palmitoyl Protein Thioesterase 1 Gene
• Elevated Serum Glutamic Pyruvic Transaminase (SGPT)
• Onset of Alopecia in Infancy
• Frequency 1 in 100,000-130,000 Live Births
• High Voltage Spikes Over the Temporal and Central Regions
• Intermittent Increase of Urinary Ethylmalonic Acid
• Pyruvate Mildly Increased
• Short, Curved Ulna
• Slowing - Delta Waves Occipital
• Adult Onset (2nd to 6th Decade)
• Pseudodementia
• Sebaceous Cysts - Buttocks and Perineum
• No Peripheral Signs of Hypothyroidism
• Autosomal Dominant Omodysplasia Has Also Been Described
• Mutation in the VPS13A Gene
• Decreased Activity of Cytochrome C Oxidase Seen on Muscle Biopsy
• Caused by Mutation in the Ataxia-Telangiectasia Mutated Gene
• Perioral Keratotic Plaque
• Intermittent Dicarbonic Aciduria
• Death in Infancy due to Pulmonary Insufficiency
• Caused by Somatic Mutations
• Abnormal Myelination (MRI)
• Movement Abnormalities of the Extremities
• Slowing - Theta Waves Frontal Bilaterally
• Craniosynostosis (Coronal, Metopic, Lambdoidal)
• Age at Onset 14 to 44 Years
• Monoamine Oxidase Inhibitor Poisoning
• Mutation in the MCT8 Gene
• Intermittent Neck Flexion
• Keratotic Plaque around Nostrils
• Variation in Fiber Size Increased (Muscle Biopsy)
• Clinical Features May Vary
• Small Pterygia (Axillary, Popliteal)
• Acid Phosphatase Increased
• Relatively Short Fibulae
• Intermittent Ethylmalonic Aciduria
• Somatic Mutation in the KRAS Gene
• Caused by Mutations in the Tumor Protein 63 Gene