33101 to 33200 most common queries

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

• Lack of Communication
• No Gaze Contact
• Inability to Hold Neck up - Onset at 6 Months
• Hypotonia Proximal Severe
• Features in Addition to Mental Retardation Are Variable
• Short Thick Distal Phalanges
• Small, Deep-Set Eyes
• Small Eyelashes
• Pyramidal Syndrome of the Lower Limbs
• Slowly Progressive Spastic Paraplegia
• Caused by Constitutive Activation of the AVPR2 Receptor
• Normal Neonatal Course
• Mutation in the AVPR2 Gene
• Antidiuretic Hormone Not Detectable
• Euvolemia
• Aldosterone Normal
• Creatinine Mildly Decreased
• Inappropriately Increased Urine Osmolality
• Appropriately Increased Serum 1,25-Dihydroxyvitamin D3
• Caused by Mutation in the p21-Activated Kinase 3 Gene
• Relatively Long Ears
• Some Patients Can Hold Menial Jobs
• Some Patients Attend Special School
• Most Patients Have Adult Onset of Symptoms
• Exercise-Induced Myoglobinuria
• Muscle-Specific Phosphorylase Kinase Activity Decreased
• Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
• Frontal Bone Hypoplasia
• Night Blindness in Some Female Carriers
• Possibly Decreased Visual Acuity in Female Carriers
• Severe Early-Onset Retinitis Pigmentosa
• Normal Intelligence in Carrier Females
• Lung Hypoplasia at Birth
• Severe Respiratory Muscle Weakness
• Respiratory Distress due to Muscle Weakness - Often Fatal
• Muscle Biopsy Shows No Dystrophic Changes
• Type 1 Fibers Are at Least 12% Smaller than Type 2 Fibers
• Muscle Biopsy Shows Fiber Type Disproportion
• Relatively Preserved Limb Strength
• Generalized Neonatal Hypotonia
• Repeat Is Unstable if > 52 Repeats
• 50% of Females Have Learning Disability or Mild Mental Retardation
• Mutation in the FMR1 Gene
• Mild Form of Hemoglobin H Disease
• Mild Hypochromic Microcytic Anemia
• Hb H Erythrocyte Inclusions
• Small, Triangular Nose
• Expressive Speech Absent
• Ringed Sideroblasts on Bone Marrow Examination
• Lack of Excessive Parenchymal Iron Storage
• Nonprogressive Cerebellar Ataxia
• Painful Crises Precipitated by Exercise Fatigue or Stress
• Onset Usually in Childhood or Adolescence
• Globotriaosylceramide Increased
• Bone Marrow Contains Lipid-Laden Macrophages
• Alpha-Galactosidase A Deficiency
• Limited Extension of Terminal Joints
• Episodic Hypoventilation
• Neuronal Loss and Gliosis in the Inferior Olives
• Neuronal Loss and Gliosis in the Dentate Nucleus
• Spasticity (Later Onset)
• Intermittent Episodes Associated with Lethargy, Vomiting
• Progressive Cerebellar Dysfunction
• Skewed X-Inactivation in Majority of Female Carriers
• Caused by Mutations in the PHD Finger Protein 6 Gene
• Widely Spaced and Flexed Toes
• Hypoplastic Distal and Middle Phalanges
• Scheuermann-Like Vertebral Changes
• Postpubertal Gynecomastia
• Small Atrophic Testes
• Alpha Asymmetry
• Urine 2-Ethylhydracrylate Increased
• Urine 3 Methylglutarate Elevated
• Urine 3-Methylglutaconate Elevated
• Ultrastructural Abnormalities in Mitochondria on Electron Microscopy
• Caused by Mutations in the NHS Gene
• Diastema
• Tapered Premolar and Molar Cusps
• Supernumerary Maxillary Incisors
• Screwdriver Blade-Shaped Incisors
• Normal Vision
• Posterior Y-Sutural Cataracts
• Bilateral Congenital Cataracts
• Large, Anteverted Pinnae
• Mild-Moderate Mental Retardation
• Most Patients Are Males
• Hyperphalangy of Index Finger
• Ulnar Deviation of Index Finger
• Normal Intelligence (Majority)
• Heterozygous Females More Mildly Affected than Hemizygous Males
• Mutation in the Connexin 32 Gene
• Motor Nerve Conduction Velocity Reduced
• Transient Reversible Neurologic Deficits
• See Also CMTX1 and CMTX3
• See Also CMTX1 and CMTX2
• Onset at Age 10 to 14 Years
• EMG Findings Suggest Axonal Involvement
• Spastic Paraparesis Has Been Reported
• Mild to Moderate Distal Sensory Impairment
• Paravertebral Stippling