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26101 to 26200 most common queries

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Loss of Large Myelinated Fibers (Sural Nerve Biopsy) Mild Upper Limb Ataxia Fine Touch in the Lower Extremities Decreased Caused by Mutation in the Ring Finger Protein 170 Gene Axonal Spheroids in the Dorsal Column Respiratory Insufficiency due to Defective Ciliary Clearance Beating Amplitudes in Cilia Reduced Absence of Projection C2b at the Central Pair Apparatus of Cilia Rare Occurrences of 9+0 or 8+1 Cilia Recurrent Rhinitis Visual Impairment is Present at Birth and is Progressive Atrophy of Peripheral Retinal Pigment Epithelium Bone Spicule Pigmentation Oculodigital Reflex Severe Loss of Vision Vitreous Normal Bilateral Superior Corneal Opacities Neonatal Laryngospasm Episodic Neonatal Apnea Loss of Large Myelinated Fibers (Nerve Biopsy) Mildly Decreased Nerve Conduction Velocities Neuropathic Changes Seen on EMG Mother Who Carries the Mutation Is Clinically Unaffected Loss of Independent Walking by Teenage Years Adhalin Deficiency (Muscle Biopsy) Necrosis and Degeneration (Muscle Biopsy) Skin Dimples on Upper Thighs Mutation in the Cystatin A Gene Mitral and/or Tricuspid Valve Dysplasia Darkly Pigmented Skin Pectus Anomalies Candidiasis Is Restricted to Nails of Hands and Feet Microvacuolation No Pick Bodies or Lewy Bodies Amyloid Plaques May be Present Cognitive Impairment - Gradual Onset Necrotic and Atrophic Fibers with Centralized Nuclei Levels of Coenzyme Q10 in Skeletal Muscle Decreased Abnormal Mitochondria in Podocytes Podocyte Effacement Coenzyme Q10 Content Decreased Some Patients Carry Heterozygous Mutations Mutation in the Paraplegin Gene Lactic Acidosis during Infection Carrier Rate of 1 in 11 Among Old Order Amish Death Usually Within First Year of Life Progression of the Disorder is Precipitated by Viral Symptoms Mutation in the Solute Carrier Family 25 Member 19 Gene Urine 2 Ketoglutarate Increased Absence of Anterior and Posterior Fontanelles Nearly Absent Cranial Vault Extreme Microcephaly Hepatomegaly Associated with Infection Hypoplastic Pons Immature Brain with No Gyral Development Mutation in the Adenylate Cyclase 5 Gene Quadricuspid Aortic Valve Urethral Prolapse Single Kidney 17-Hydroxyprogesterone Level Elevated F Syndrome Has Many Overlapping Features Cutaneous Syndactyly of All Toes Soft Tissue Syndactyly between All Fingers Seizures Remit in Early Childhood Mutation in the CHSY1 Gene Facial Appearance Becomes More Apparent with Age Mutation in the MLL Gene Patchy Hypertrichosis Sacral Dimple Cupid's Bow Exaggerated Slim Muscular Build Androgenic Alopecia Central Fat Distribution Cortisol Secretion Rate High-Normal or Increased High Level of Cortisone Metabolites Urine Cortols-to-Cortolone Ratio Decreased Conversion of Oral Cortisone Acetate to Plasma Cortisol Delayed Disease Complicated by Recurrent Sepsis in Some Patients Dilation of Dermal Capillaries Mild Dermal Perivascular Lymphocytic Infiltrate Granular Layer Normal or Slightly Prominent Moderate Parakeratosis Moderate Acanthosis Mild Thickening of Stratum Corneum Orthokeratosis Scales on Scalp Fine, White or Greyish White Scales Progressive Conduction Defect Patients Often Require Implantation of a Pacemaker Incomplete or Complete Right Bundle Branch Block Caused by Mutation in the TRK-Fused Gene (TFG) Neurogenic Changes (EMG and Biopsy) Axonal Degeneration Seen on Nerve Conduction Studies Loss of Myelinated Fibers in Spinal Cord Roots Bulbar Symptoms May Occur Homozygotes Have Earlier Onset and a more Severe Disorder High Incidence in Sweden and Finland Adult Onset - Range 40-60 Years Myopathic Changes Seen Muscle Biopsy Weakness of the Anterior Tibial Muscle and Toe Extensors