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Spontaneous Non-Scarring Healing Residual Painless Erythema Superficial Skin Peeling Limited to Dorsa of Hands and Feet Patients May Show Normal Development Mutation in the ACY1 Gene Urine N-Acetylated Amino Acids Increased Aminoacylase-1 Activity Decreased Mild to Moderate Psychomotor Retardation Onset 0-12 Hours after Birth Caused by Mutations in the Marvel Domain Containing Protein 2 Gene Mutation in the TGFBR2 Gene Wide and Short Nape of the Neck Severe Truncal Ataxia Mean Age at Diagnosis Is 38 Years Caused by Mutation in the Desmoglein 2 Gene Onset of Dilated Cardiomyopathy Less than 3 Years Frequency in the Canadian Dariusleut Hutterites Increased Early-Onset Dilated Cardiomyopathy Hepatic Enzymes Mildly Increased Radiography Shows Porotic Changes Periosteal Reaction Adult Onset of Gait Abnormalities Ptosis (with Longer Disease Duration) Ophthalmoparesis (with Longer Disease Duration) Smooth Pursuit Abnormalities Muscle Tone in Lower Limbs Increased Deafness Affects All Frequencies Mutation in the REEP1 Gene Proximal Weakness of the Lower Extremities Deep Tendon Reflexes Slightly Decreased Neuromuscular Tone Slightly Decreased Pachygyria Bilateral Frontotemporal Macula Clear in Early Stages Blood Vessels in Periphery Attenuated Night Blindness Followed by Complete Blindness Allelic with Cone Rod Dystrophy Type 10 Caused by Mutation in the Semaphorin 4A Gene Hepatic Venous Thrombosis Onset of Thrombosis by Age 2 Years Mutation in the Phosphatidylinositol Glycan Class M Gene No Bone Marrow Abnormalities No Hemolysis Variable Pattern of Body Involvement Mutation in the Epsilon-Sarcoglycan Gene Dilated Cardiomyopathy May Occur Hypotrophy of Type 1 Fibers Atrophy of Ankle and Toe Extensor Muscles Weakness of Ankle and Toe Extensor Muscles Muscle Wasting (Especially Temporal, Face, and Neck) Sleep-Onset REM Germline and Somatic Mutations Contribute to this Disorder Toe Abnormalities Finger Abnormalities Pigmented Malformed Teeth Allelic to LEOPARD Syndrome Taurodontism Histology Shows Degeneration of Retinal Ganglion Cells Temporal Optic Nerve Pallor Variable Severity and Progression Caused by Mutation in the Keratin 6A Gene (KRT6A) Caused by Mutation in the Keratin 16 Gene Incomplete Penetrance of the 3 Main Clinical Signs: Myopathy - Dementia - Paget Disease Many Patients Become Wheelchair-Bound Mean Age at Onset of Dementia: 57 Years Mean Age at Onset of Bone Disease Is 40 Years Ubiquitin-Positive Intranuclear Neuronal Inclusions Dystrophic Neurites Attacks Tend to Decrease with Age Non-Epileptic Tonic Attacks Both Reported Cases Survived Beyond Infancy Allelic to Greenberg Dysplasia Hypokalemia during Periodic Paralysis Mild Learning Disabilities Periodic Paralysis Usually Hypokalemic Allelic to Birt Hogg Dube Syndrome Renal Biopsy Shows Medullary Cysts Mutation in the Uroporphyrinogen Decarboxylase Gene Rectal Dilatation Mutation in the Cardiotrophin-Like Cytokine Gene Bilateral Syndactyly Mild Sensorimotor Peripheral Neuropathy Sloping Epiphyses of the Radii Short Distal Ulnae Rhizomelic Shortening of the Long Bones Particularly the Upper Limbs Irregular Sacro Iliac Joints Narrowed Lumbar Canal Frequency and Severity of Seizures Tends to Decrease with Age EEG Shows Frontal Lobe Origin Tongue Movements, Protrusions Hypermotor Behavior Complex Motor Behavior Such as Sleep Walking Shivering Sensation Frightening Sensation Fearful Expression Unintelligible Speech Vocalizations Grunting Sudden Awakening Nocturnal Seizures Usually Occur in Daily Clusters Allelic to Hyperimmunoglobulinemia D Syndrome Eversion of Lower Lip Hirsutism (Back and Legs)