26101 to 26200 most common queries

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

• 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