Sitemap | Symptoma 28901 to 29000 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Tongue Weakness Highly Variable Severity of Muscle Weakness Other Muscles Become Involved about 5 Years after Onset Ptosis Is Usually Presenting Feature 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) Facial Muscle Atrophy 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 Thickening of the Skull Ossification of the Falx Cerebri 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 EMG Shows Myopathic or Neurogenic Changes Non-Progressive or Very Slow Progression Type 2 Muscle Fiber Predominance Hip Abductor Weakness and Atrophy 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 Writing Fatigability Difficulties in Fine Bimanual Activities Involuntary Mirror Movements (Upper Limb, Hand) Thick, Everted Lower Lip Wide Mouth Open Mouth Large Prominent Nose Small Bulbous Nose Abnormality of the Ear Large Simple Ears Small Ears with Large Lobules Outer Ear Abnormalities Postnatal Growth Retardation Short Stature - Deletion Patients Sleep Abnormalities Segmental Distribution Often Affecting One Limb Sclerotic Soft Tissue Over Affected Bones Skin Atrophy Over Affected Bones Caused by Mutation in the GATA-Binding Protein-4 Gene Cardiac Valve Insufficiency Atrioventricular Septal Defect Pulmonary Valve Thickening or Stenosis Caused by Mutation in the Desmoglein 4 Gene (DSG4) Beard, Axillary and Pubic Hair Usually Normal Eyebrows and Eyelashes May Be Sparse Short Sparse Hair on Scalp Fragile Hair that Breaks Easily Trichoschisis Elliptical Nodes Marked Swelling of Precortical Region Hair Shafts Often Coiled Within Skin Abnormal Hair Follicles with Thin Atrophic Shafts Pruritus in Affected Areas Erythema in Affected Areas Marked Variability in the Deletion Size Straight Eyebrows Obesity - after Infancy Decreased Caveolin 3 Expression Seen on Muscle Biopsy Dystrophic Changes Seen on Skeletal Muscle Biopsy Mutation in the SCN2A Gene
