Sitemap | Symptoma 25901 to 26000 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Loss of Independent Ambulation Progression in Adulthood Onset of Mild Symptoms in First or Second Decade Distal Sensation Decreased Hypomyelinating Leukoencephalopathy Patients Who Acquire Ability to Walk May Lose It Prenatal Onset or Onset in Infancy Conduction Abnormalities Talipes Foot Deformities Loss of Head Control Variability in Fiber Size Head Drop due to Neck Muscle Weakness Axial Weakness Mutation in the Integrin Alpha 7 Gene Lack of Integrin Alpha-7 Staining Mild Dystrophic Changes (Muscle Biopsy) Absence of Inner and Outer Dynein Arms of Cilia Mutation in the Leucine Rich Repeat Containing Protein 50 Gene Recurrent Respiratory Infections due to Defective Cilia Prominent Central Incisors Hypotelorism Short Smooth Philtrum Happy Disposition Volume of Cerebral White Matter Decreased Language Development Limited to a Few Words Motor Development Delayed Mutation in the CLEC7A Gene Caused by Mutation in the Desmocollin 3 Gene Sparse to Absent Body Hair Normal Sebaceous Glands Lack of Mucosal Vesicles Fluid-Filled Vesicles on Scalp and Skin, Diameter <1 cm Absent Cone Responses on Electroretinography Mutation in the Renin Gene Excretion of Calcium Decreased Urine Uromodulin Decreased or Absent Focal Tubular Dystrophy Focal Tubular Atrophy Slowly Progressive Renal Failure Caused by Mutation in the Tolloid-Like 1 Gene Aneurysm of Interatrial Septum Atrial Septal Defect Type 1 or 2 Autosomal Recessive Inheritance with Earlier Onset Has Been Suggested Onset in Second Decade or as Young Adult Mutation in the RRM2B Gene Mutation in the RIN2 Gene Mild Aortic Dilatation Receding Anterior Hairline Multiple Pigmented Moles Soft Redundant Skin - Especially Facial Normal to Mildly Delayed Development Focal Ballooning of Hepatocytes COX-Depleted Fibers Onychocorneal Band Widened No Cytolysis or Abnormal Keratohyalin Granules Keratosis Pilaris of Arms and Legs Whitish Opalescence of Buccal Mucosa Whitish Opalescence of Hard Palate Whitish Opalescence of Glans Penis in Circumcised Males Electron-Dense Granulofilamentous Material in Sarcoplasma L-Dopa-Induced Dyskinesias Foot Dragging May Appear in Childhood Caused by Mutation in the Phospholipase A2 Group VI Gene Hypometric Vertical Saccades Facial Hypomimia Brain Iron Accumulation Frontotemporal Dementia of Variable Severity Frontotemporal Lobar Atrophy No Vascular Tortuosity Large Wide Feet Abnormal Helices Antihelices and Lobules Narrow Ears Treatable by Bone Marrow Transplantation Susceptibility to Infection with Human Herpesvirus Caused by Mutation in the Adenylate Kinase-1 Gene Lesions Increase in Size and Number with Age Linear Porokeratosis Primary Dentition Delayed Thin Nose Severity of Skin Symptoms Varies within Families Clubbing of Nails Electron-Lucent Vacuoles Possibly Containing Smaller Vesicles Vesicular Complexes in the Stratum corneum Lamellae in Stratum Corneum with Few or Minimal Lipid Droplets Reticulate Ichthyosis Larger, Brownish Scaling on Neck, Buttocks, and Legs Fine, Whitish Scaling on Face and Trunk Ichthyosis Generalized Osteoclasts and Osteoblasts Decreased Bone Biopsy Shows Low Trabecular Bone Volume Seizures Are Usually Intractable Mutation in the STXBP1 Gene Death Can Occur in Infancy Poor Visual Contact Intestinal Dysmotility Abnormal Mitochondrial Proliferation Severe mtDNA Depletion Caused by Mutation in the TAR DNA-Binding Protein Gene Seizures and Cognitive Involvement Are Variable Findings Onset in Early to Late Childhood
