24201 to 24300 most common queries

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

• Mephenytoin Hydroxylation Defect
• Hydantoin Toxicity
• Mutation in the Cytochrome P450 Subfamily IIc Gene
• Majority of Cases Are due to De Novo Mutation
• Obesity after Puberty
• Distinct from Pseudopili Annulati
• Fragility of Hair Usually Not Increased
• Reflected Light Shows Bright and Dark Bands
• Hair Is Not Twisted
• Hair Shows Normal and Constant Diameter Along Shaft
• Bands Are due to Air Spaces in Cortex of Hair
• Favorable Response to Sodium Chloride Treatment
• Some Patients May Be Clinically Asymptomatic
• Sleep Disorder with Severe Insomnia (in Adulthood)
• Cognitive Decline in Adulthood
• Development of Tumours in Adulthood
• Arteriovenous Malformations Can Occur Throughout the Body
• Risk of Gastrointestinal Cancer Increased
• Somatic Mutation in the GNAS1 Gene
• Mutation in the PKD2 Gene
• Slender Upper Lip
• Highly Variable Expression
• Mutation in the Peptidase D Gene
• Pruritic, Eczematous Lesions
• Impetigo-Like Eruptions
• Glycosylation of Alpha Dystroglycan Decreased
• Highly Variable Organ Involvement and Severity
• Early Onset Has Rarely Been Reported
• Late-Onset Dysphonia
• Progressive Hearing Loss
• Subsarcolemmal Accumulations of Abnormally Shaped Mitochondria
• Axonal Sensory Neuropathy
• Gait Difficulties (Late Onset)
• Fatal Subacute Encephalopathy Has Been Reported in One Family
• Earlier Onset Associated with Greater Severity
• Scoliosis - in Those with Early Onset
• Contractures (in Those with Early Onset)
• Absent Nerve Conduction Velocities
• Fatal Subacute Encephalopathy
• Death within First Months or Years of Life
• Fulminant Hepatic Failure (in 2 Sibs)
• Misaligned Teeth
• Frontoparietal Pachygyria
• Moderate to Profound Mental Retardation
• Pathogenic Alleles Contain 71-1,300 Repeats
• Normal Alleles Contain 15-50 Repeats
• Cortical Dysplasia
• Simplified Cortical Gyration Pattern
• Possibly Death in Early Infancy
• Small, Turned-up Nose
• Poor Feeding in Early Life
• Muscle Weakness after Cooling or on Warming Affected Muscle
• Favorable Response to Minocycline or Azithromycin
• Mode of Inheritance is Unclear
• Onset in Teenage or Young Adult Years
• Squat Papillomatosis
• Epidermal Undulation
• Confluent, Centrally Erythematous (Later Brown) Papillomatosis
• Peripheral Reticular Papillomatosis, 1-2 mm, Growing and Coalescing
• Onset of Skin Changes in Childhood
• Caused by Mutation in the LEM Domain-Containing-Protein-3 Gene
• Collagen-Rich Connective Tissue Nevi
• Elastin-Rich Connective Tissue Nevi
• Subcutaneous Connective Tissue Nevi
• Subcutaneous, Non-Tender, Firm Nodules
• Mutation in the Collagen I Alpha 2 Polypeptide Gene
• Mutation in the COL1A1 Gene
• Opalescent Teeth
• Dentinogenesis Imperfecta
• Normal Teeth
• Highly Variable Severity of Muscle Weakness
• Other Muscles Become Involved about 5 Years after Onset
• Mean Age at Onset 22 Years
• Recurrent Pneumonia due to Aspiration
• Restrictive Ventilatory Defect
• Weight Loss due to Dysphagia
• Creatine Kinase Normal or Increased
• Angulated Fibers
• Variation in Fiber Size Seen on Muscle Biopsy
• Myogenic Changes (EMG)
• One Patient with Severe Congenital Onset Reported
• Mutation in the SPTLC1 Gene
• Variable Motor Involvement
• Autonomic Involvement Is Variable
• Lower Limbs More Severely Affected than Upper Limbs
• Subcortical White Matter Lesions in the Temporal Lobes (MRI)
• Mild Facial Muscle Weakness
• Allelic to Myosin Storage Myopathy
• Mutation in the MYH7 Gene
• Abnormalities in Myofibril Organization
• Cores or Minicores
• Sarcoplasmic Inclusions
• Fiber Type Grouping
• Non-Progressive or Very Slow Progression
• Type 2 Muscle Fiber Predominance
• Patellar Reflexes Decreased
• Difficulty Running and Climbing Stairs
• Disorder Usually Remains Stable over Time
• Pain or Cramping during Sustained Manual Activity
• Abnormal Corticospinal Tract Decussation