35201 to 35300 most common queries

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

• Thickened Skin over the Elbows and Along the Fingers
• Defective IL21R-Related Signaling
• Facial Adipose Tissue Normal or Increased
• Presence of Erythrocyte Antigen 1
• Mutation in the Tumor Protein p63 Gene
• Microsclerocornea
• Alpha B Crystallin Expression in Oligodendrocytes
• Mutation in the P2RY12 Gene
• Difficulty in Toe Walking
• Scarring Normal
• Delicate Skin
• Mutation in the Ninein Gene
• Normal Enamel Volume
• Soft Tissue Syndactyly between All Fingers
• Mutation in the TBXAS1 Gene
• Severe Disorder
• Mild Neutropenia
• Ribose-5-Phosphate Isomerase Deficiency in Fibroblasts
• Increased IgE - Impaired NK-Cell Activity
• Mild Mental Retardation in Some Patients (IQ 70-80)
• Mutation in the CRYBA2 Gene
• Atrophy of Hippocampal Dentate Gyrus
• Electron Microscopy Shows Decreased Size of Synaptic Vesicles
• Platelets Show Normal ADP-Induced Shape Change
• Contractures of Third to Fifth Fingers
• Absence of Fear
• Discolored Enamel (Yellow Brown)
• Skin Pustule
• Seizures Remit in Early Childhood
• Corticosteroid-Sensitive Anemia
• Mild Radial Hypoplasia
• Cerebrospinal Fluid and Urine Ribitol and D-Arabitol Increased
• Usually Begins in Feet and Legs
• Mild Lumbar Scoliosis
• B Cell Class Switching Impaired
• Intracranial Calcifications in the Anterior Mesial Temporal Lobes
• Absence of Interphalangeal Creases
• Defect in Resynthesis and Packaging of Acetylcholine
• Platelets May Show Reduced ADP-Binding Activity
• Majority of Cases Have Been Sporadic
• Generalized Joint Hypermobility
• Dementia (Onset in Fifth Decade)
• Caused by Mutation in the Ribosomal Protein L21 Gene
• Mutation in the CHSY1 Gene
• Wide Diaphyseal Medullary Cavities
• Phenotypic Overlap with FHM1 and SCA6
• Normal Numbers of Lymphocytes and NK Cells
• Mild Sensorimotor Neuropathy
• Nerve Biopsy Shows Decreased Number of Myelinated Fibers
• Delayed Bone Age during Childhood
• Shoulder Muscle Weakness
• Quantal Content Declines with Activity
• Episodic Absence-Like Spells
• Platelets Fail to Inhibit the Rise of cAMP Levels in Response to ADP
• Muscle Mass Decreased
• Overriding 3rd Toes
• Bulbous Nasal Tip
• Genetic Heterogeneity of Axonal CMT
• Facial Appearance Becomes More Apparent with Age
• Hair Follicles Significantly Decreased in Number and Size
• Thick Long Bones of the Extremities
• Mutation in the Caspase Recruitment Domain Containing Protein 11 Gene
• Genetic Heterogeneity (MADA)
• Most Common Episodic Ataxia Syndrome
• Demyelination and Remyelination (Nerve Biopsy)
• Ferritin Decreased
• Prepubertal Breast Development
• Absence of Ophthalmoparesis
• Platelets Show Impaired Aggregation in Response to ADP
• Chiari I Malformation of the Cerebellum
• Cuboid-Shaped Thoracolumbar Vertebral Bodies
• High Mortality in Infancy and Early Childhood
• Onset in Fourth to Sixth Decade
• Hypoplastic Diaphragm
• Mutation in the MLL Gene
• Variable Neurologic Phenotype
• Small Uterus (Prepubertal Size)
• Thin Hair Shafts without other Characteristic Features
• Mutation in the ZMPSTE24 Gene
• Motor Nerve Conduction Velocity Decreased (<38 m/s)
• Defective Intracellular Signaling in Lymphocytes
• Increased Serum Creatine Phosphate
• Absence of Ptosis
• Early Death due to Sepsis
• Irregular Ridges on Incisors
• Some Patients May Have Normal Psychomotor Development
• Prevalent in Newfoundland
• Caused by Mutation in the Early Growth Response-2 Gene
• Conversion of Beta-Carotene to Vitamin A Decreased
• Onset Usually in Adulthood
• Worldwide Frequency of 1 in 100 000 Infants
• Patchy Hypertrichosis
• Insensitivity to Growth Hormone Therapy
• Nose Pinched
• Sparse or Absent Eyebrows and Eyelashes
• Effector T Cells Decreased
• Increased Jitter Seen on Single Fiber EMG
• Upper Limb Involvement May Occur Later
• White Sclera
• Monocyte Motility Impaired