34501 to 34600 most common queries

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

• Mouth Movements
• MRI May Show Atrophy of the Cerebrum
• Responsive to Carnitine Supplementation
• Late Hypertonia
• Rare Occurrences of 9+0 or 8+1 Cilia
• Mixed Hearing Loss
• Narrow Nose
• Tonus Dysregulation
• Onset in Young Adulthood
• Phenotypic Overlap with Denys Drash Syndrome
• Delayed Hypersensitivity Impaired
• Occipital Cutis Aplasia
• Foreign Body in the Pharynx
• Genetic Heterogeneity - See RMD1
• Tonic Head Extension
• Onset in Infancy of Acute Hypoglycemic Episodes
• Genetic Heterogeneity (see FEB1)
• Recurrent Pseudoobstruction
• One Amish Family Has Been Reported
• 'Fishlike' Facies
• Carrying Angle Increased
• Large Areolae
• Visual Impairment is Present at Birth and is Progressive
• Mutation in the DNAJ-HSP40 Homolog Subfamily B Member 2 Gene
• Abnormal Primitive Reflexes
• Genetic Heterogeneity (see NPC1 257220)
• Rectal Foreign Body
• Mean Age of Onset 22 Years
• Mutations in the WT1 Gene
• Arm Flexion
• Cytogenetic Deletion of Chromosome 19q13
• Recurrent Abdominal Distension
• Seizures Remit by Age 5 Years
• Two Main Presentations
• Predisposition to UV Induced Malignancies
• Craniofacial Dysplasia
• Mutations in the SLURP1 Gene
• Atrophy of Peripheral Retinal Pigment Epithelium
• Relatively Small Breasts
• Mild Dysphonia
• Easily Frustrated
• Majority of Patients Have Normal Intelligence
• Early Death from Respiratory Failure May Occur
• Foreign Body in the Larynx
• Reported in 1 Family
• Muscle Activity is Electrically Silent on EMG
• Little or No Speech Acquisition
• Onset at Age 3 Months to 5 Years
• Decreased Motility
• Short Stature (3.8-5.2 SD)
• Mutation in the Solute Carrier Family 22 Member 5 Gene
• Fragile Lustreless Nails
• Multiple Fracture-Like Rib Lesions
• Mild Proximal Muscle Weakness of Lower Limbs
• Toilet Training Delayed
• Severe Loss of Vision
• Notched Alae Nasi
• Highly Variable Phenotype and Age of Onset
• Mutation in the Zinc Finger Protein 141 Gene
• Death in First Months of Life
• Mental Development Worsens after Onset of Seizures
• Seizures Recur in 33% of Patients
• Hepatic Glycogen Accumulation
• Speech Limited to Single Word or No Words
• Abdominal Wall Musculature Absent
• Middle Lobe Syndrome
• Transgressive Keratosis
• Stenotic Ostia of Ureters
• No Ketosis
• Distal Muscle Weakness (Lower Limbs > Upper Limbs)
• One Report of Mother and Son (as of August 2012)
• Severe Pulmonary Involvement
• Bloated Face
• Well-Formed Fifth Toe Duplication
• 20-30 Degree Extension Deficit of Knees and Elbows
• Clinical and Biochemical Abnormalities Improve with Age
• Seizures Usually Last 1 to 5 Minutes
• Mutation in the ACTG2 Gene
• Verbal Comprehension Limited
• Broad Notched Nasal Tip
• Mutation in the TARS2 Gene
• Bilateral Hydroureter
• Staphylococcal Food Poisoning
• Carnitine in Serum, Muscle, Heart, and Liver Decreased
• Symptoms May Be Precipitated by Infection
• Amplitudes of Lower Limb Motor Nerves Decreased
• Vitreous Normal
• Foam Cells on Bone Marrow Biopsy
• Small Central Phalanx of Fifth Finger
• Narrowing of the Frontal Part of the Skull
• For Autosomal Recessive Forms See CMT2B1 and CMT2B2
• Mutation in the PHKG2 Gene
• Onset 70-90 Years
• Subsarcolemmal Lipofuscin-Positive Deposits
• Salmonella Food Poisoning
• Violent Behavior
• Cranium Bifidum Occultum (Defect in Midline of Frontal Bone)
• Hyperfluorescent Temporal Nerve Fiber Bundle Defects on Angiography
• Double Renal Pelvis
• Delay in Gross Motor Development due to Weakness