38901 to 39000 most common queries

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

• Hypoplastic Ear Lobes
• Coarse Face
• Prolonged Bleeding after Trauma or Surgery
• Thrombopoietin Elevated
• Morbidity and Mortality in Affected Males Increased
• Trapezoidal Shaped Skull
• Occipital Bossing
• Widened Suture
• Broad, Flat Ribs
• Death within first Year of Life
• Low Absolute Lymphocyte Count
• Lymph Nodes Are Small and Poorly Developed
• T Lymphocytes Absent
• Natural Killer Cells - Reduced Numbers and Cytotoxicity
• Specific Antibody Production Severely Decreased
• Unilateral Chest Hypoplasia
• Mutation in the Rho Guanine Nucleotide Exchange Factor 6 Gene
• Less Severe Phenotype in Females
• Urine 2-Methyl-3-Hydroxybutyrate Increased
• Activity of 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase Decreased
• Inverted-V-Shaped Mouth
• Mild Truncal Obesity
• Mutation in the Immunoglobulin Binding Protein 1 Gene
• Cup Ear
• Caused by Mutation in the Oligophrenin 1 Gene
• Long, Tubular Nose
• Marked Infraorbital Creases
• Upturned Philtrum
• Cerebral Volume Decreased, Especially of the Frontal Lobes
• Retrocerebellar Cysts
• Mild Mental Retardation in Most Female Carriers
• Affected Individuals Remain Ambulatory in Old Age
• Peripheral Nerve Biopsy Normal
• Muscle Biopsy Shows Neurogenic Changes
• Lower Limbs Affected before Upper Limbs
• Caused by Mutation in the Synapsin 1 Gene
• Associated with Mutation in the Neuroligin 3 Gene
• No Peripheral Signs of Hypothyroidism
• Mutation in the MCT8 Gene
• RT3 Decreased
• Triiodothyronine Increased
• Thyroid-Stimulating Hormone Normal or Mildly Increased
• Thyroxine Decreased
• Joint Contractures (Small and Large Joints)
• Flattened Antihelix
• Prominent Antihelices
• Pinna Modeling Anomalies
• Broad Shallow Pectus Excavatum
• Lack of Communication
• No Gaze Contact
• Inability to Communicate
• Dystonic Posturing of the Hands
• Neck Drop
• Inability to Hold Neck up - Onset at 6 Months
• Hypotonia Proximal Severe
• Features in Addition to Mental Retardation Are Variable
• Abundant Body Hair
• Short Thick Distal Phalanges
• Small, Deep-Set Eyes
• Small Eyelashes
• Raised Earlobes
• Pyramidal Syndrome of the Lower Limbs
• Hypertonia (in 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
• Renal Phosphate Wasting
• 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
• Horizontal Smile
• Microdontia (Maxillary Lateral Incisors)
• Repeat Is Unstable if > 52 Repeats
• Mutation in the FMR1 Gene
• Allelic to Carpenter-Waziri Syndrome (without Alpha-Thalassemia)