20701 to 20800 most common queries

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

• Mutation in the Gene Encoding Desmoglein 1
• Onycholysis Mild
• Ridging
• Mild Nail Dystrophy
• Separation of Keratinocytes in Spinous Layer
• Normal Keratin Intermediate Filaments
• Widening of Intercellular Spaces
• Papillomatosis Hypergranulosis
• Hyperkeratotic Plaques on Anterior Knee Area
• Hyperkeratotic Plaques on Anterolateral Ankle Area
• Hyperkeratosis of Pressure Sites of Palms and Soles
• Hyperkeratosis on Dorsal Surface of Fingers and Toes
• Exudative Vitreoretinopathy
• Facial Muscle Atrophy on Involved Side
• Hypoplastic Glomerulocystic Kidney Disease
• Abnormal Renal Pelvises
• PRNP-Immunoreactive Cerebral Amyloid Angiopathy
• Male-Limited Trait
• Progressive Degenerative Osteoarthropathy
• Hypoplasia of Bony Condyles of Knees
• Malaligned Elbows and Wrists
• Intrathoracic Duodenal Bulb
• Frequent Upper and Lower Respiratory Tract Infections
• Painful Swelling in Aponeuroses
• Mutation in the Excision Repair Cross Complementing Group 6 Gene
• Genu Valgum Deformity
• Relative Muscle Weakness, Especially in Pelvic Girdle
• Imprinting at 11p15.5
• Mutation in the CDKN1C Gene
• Blake's Pouch
• Wide Thin Scars
• Bradykinetic Tongue
• Laryngeal Adductor Spasmodic Dysphonia
• Oral Mucous Membrane Dyskeratosis Resembling Leukoplakia
• Irritation of Eye with Itching
• Dilated Superficial Vessels Give 'Red Eye' Appearance
• Extensive Lesions May Impair Vision
• Lesions May Involve Cornea
• Possibly Only Ocular Involvement or Only Oral Involvement
• Possibly Seasonal Variation in Symptoms
• Defective Dentition
• Mutation in the Family with Sequence Similarity 111 Member A Gene
• Dense Tubular Bones and Narrow Marrow Cavities
• Episodic Hypocalcemic Tetany
• Small to Absent Parathyroid Glands
• Mitochondrial DNA Deletions
• Mild Myopathy
• Axonal Sensorineural Polyneuropathy
• Ataxia May Develop in Middle Age
• Cutaneous and Mucosal Skin Tags
• Cutis Gyrata
• Apnea during Seizures
• Sensorineural Hearing Loss - Mid-Frequency
• Ocular Abnormalities May Be Very Mild
• Pyramidal Skinfold of Halluces
• Variable Skin - Syndactyly Fingers and Toes
• Mutation in the IRF6 Gene
• Mutation in the JAG1 Gene
• Mutation in the WFS1 Gene
• Normal to Mild Mental Retardation
• Severe Limb Contractures
• Ability to Open Mouth Reduced
• Mutation in the PIEZO2 Gene
• Hypermobile First Metacarpophalangeal Joint
• Bilaterally Absent Anterior Cruciate Ligament
• Weak or Absent Tendon Reflexes - Knees and Ankles
• 25% due to Mutations in UBE3A
• Mutation in the Ubiquitin Protein Ligase E3A Gene
• Erythrocyte Adenosine Deaminase Increased
• Muscle Weakness and Atrophy
• Congenital Alopecia Universalis
• Type 3: Craniosynostosis, Early Death, Sporadic
• Type 2: Cloverleaf Skull, Elbow Ankylosis, Early Demise, Sporadic
• Normal Birth
• Corneal Reflexes Decreased or Absent
• Hyposmia - Anosmia
• Never Learn to Walk
• Unusual High Pitched Voice
• First Identified in Individuals of Cypriot Origin
• Straight Nose
• Unsteady Gait due to Muscle Weakness
• Mutation in the Brain Protein 44-Like Protein Gene
• Dysplastic Fourth Metatarsals
• Loss of Peripheral Vision in Third and Fourth Decades of Life
• Loose Anagen Hair
• Usually Fatal Within the First Few Weeks of Life
• Thin Nails
• Baseline Gonadotropins Increased
• Deficiency of Mitochondrial Respiratory Enzymes Seen on Muscle Biopsy
• Occurs Much More Commonly in Women
• Epithelial Cells May Be Sloughed Into Cysts
• COX-Deficient Fibers
• Intermyofibrillar and Subsarcolemmal Glycogen Increased
• Reduced Bending Capacity of Cilia
• Variable Muscle Weakness
• Mild to Moderate Hyperkeratosis
• Caused by Mutation in the Ataxia-Telangiectasia Mutated Gene
• Clinical Features May Vary
• Severe Proximal and Distal Muscle Weakness
• Stereotypic Laughter