22701 to 22800 most common queries

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

• Mild Spasticity
• Hypoesthesia Over Affected Areas
• Mutation in the Tumor Protein p63 Gene
• Eccentric Pupil
• Mutation in the CRYBA2 Gene
• Absence of Interphalangeal Creases
• Muscle Mass Decreased
• Chiari I Malformation of the Cerebellum
• Prevalent in Newfoundland
• Onset at Age 10-20 Years
• Pes Cavus Muscle : Leg Muscle Stiffness
• Vibration Sense in the Lower Limbs Decreased
• Mutation in the BMS1 Gene
• Grooved Enamel
• Teeth May Undergo Post-Eruptive Changes
• Pain Mostly in Trunk, Extremities, Pelvic Region, Buttocks
• Female to Male Ratio 5:1
• Mature Adipocytes
• Well-Circumscribed and Painful Subcutaneous Lipomas
• Painful Adipose Tissue
• Inflammatory Infiltrate
• Prominent Thickening of Nail Beds
• Exaggerated Lordosis
• Defective Response of B and T Cells to Activation
• Onset of Disease around 10 Years of Age
• Peripheral Vision Decreased - Childhood Onset
• Ventilation May Be Required
• Onset Usually in the Neck
• Mutation in the GDF1 Gene
• Multiple Congenital Contractures - Predominantly Knees and Ankles
• Infertility due to Asthenozoospermia
• Brain Iron Accumulation in the Basal Ganglia
• Platelets Have Increased Expression of CD34
• Anterior Commissure Not Evident
• Subclinical Axonal Neuropathy
• Hair Loss Begins in First Years of Life
• Hirsutism of Buttocks and Thighs
• Recurrent Acute Secretory Diarrhea
• Urinary Hypoxanthine Increased
• Constricted Glottic and Subglottic Airway
• Sparing of Optic Tracts
• Increased Density of the Upper Eyelashes
• Uveal Coloboma
• Coagulation Defects
• Perinatal Generalized Edema
• Jugular Bulb Dehiscence
• Hexokinase Activity in Red Blood Cells Decreased
• Abnormal Sweating due to Autonomic Dysfunction
• Mutation in the Pseudouridine Synthase 1 Gene
• Tracheomalacia - Tracheostomy May Be Required
• Nonspecific Myopathic Changes
• Jaw Lesions Show Fibroblasts in Fibrous Stromal Tissue
• Caused by Mutation in the OPA3 Gene (606580-0002)
• Caused by Mutation in the Tubulin Beta-4A Gene
• Corneal and Retinal Calcification
• Asparagine Levels Decreased
• Poor Language
• Variable Nonspecific Dysmorphic Features
• Insulin Low or Undetectable
• Corneal Thickness Increased
• Extraocular Movements Decreased
• Chronic Immune-Mediated Polyneuropathy
• Stretched Cerebellar Peduncles
• Severe Spasticity Affecting Lower Limbs
• Sensorineural Low-Frequency Hearing Loss
• Trabecular Bladder
• Mild Granular Retinal Pigmentation
• Alpha Synuclein Containing Inclusions
• Caused by Mutation in the STAM-Binding Protein Gene
• Minimal to Absent Speech
• Cardiomyopathy May Develop Later in the Disease
• Muscle Weakness - Mainly Proximal and Axial
• Episodic Throat Swelling
• Arthralgias - Knees and Shoulders
• Dilated Renal Pelvis
• Hyperlaxity
• Muscle Tone at Birth Increased
• Pulmonary Artery Hypoplasia
• Cholesta-8,14-dien-3-beta-ol in Cultured Fibroblasts Increased
• Papillary Epidermal Downgrowth
• Progressive Corneal Clouding
• Respiratory Insufficiency in Neonatal Period
• Language Delay
• N-Glycan Analysis Normal
• Short Arms, Especially in the Proximal part
• Facial Angiofibroma (Adenoma Sebaceum)
• Flat Femurs with Short Metaphyses
• Some More Severely Affected Patients May Die in Infancy
• Static or Slowly Progressive
• Caused by Mutation in the Kelch-Like Protein 41 Gene
• Distal Contractures
• Fetal Akinesia Sequence
• Breech Presentation
• Muscle Biopsy Shows Sarcoplasmic Rods in Myofibers
• Onset of Symptoms within the First 2 Decades of Life
• Mutation in the Solute Carrier Family 7 Member 14 Gene
• Thinning of Outer Retinal Layer on Optical Coherence Tomography
• Mutation in the HFM1 Gene
• Small Ovaries with Few Antral Follicles (Ultrasound)
• Mutation in the STAG3 Gene