Sitemap | Symptoma 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
