Sitemap | Symptoma 24301 to 24400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Decreased Visual Acuity in Early Childhood Late-Onset Cardiomyopathy Calf and Thigh Cramping - Muscle Pains Lower Leg Muscle Wasting Mild Structural Abnormalities (MRI) Creatine Decreased (MRS) No Inflammatory or Bullous Skin Lesions Macular Hypopigmented Whorls, Streaks and Patches Uric Acid Tophi Infantile Axial Hypotonia Heterozygous Female Carriers May Manifest Symptoms Systemic Accumulation of Very Long Chain Fatty Acids Distal Axonopathy Cerebral Demyelination and Inflammation Skin Cancer Susceptibility Brain Atrophy Mutation in the ATP7B Gene Hemarthrosis May Occur Poor Esophageal Motility Chronic Weakness Intracerebral Cysts Gray Matter Heterotopia Mutation in the TCN2 Gene Generalized Episodic Muscle Contractions Carpal Coalition Hand Contracture Epiphyseal Dysplasia of Femoral Head Elbow Malalignment Elbow Movement Restricted Prominent Lesser Trochanter Anterior Beak of Vertebral Body Urethral Atresia Distal Amyotrophy Chronic Eczematous Rash Hypoplastic and/or Dysplastic Calcaneous Hypoplasia of 5th Finger Hypoplastic Thenar and/or Hypothenar Region Hypoplastic or Dysplastic Ulna Mesomelia of Upper and Lower Limbs Localized Cellulitis Marked Undertubulation of Long Bones Centrilobular Ground-Glass Opacities Seen on CT Diffuse Bone Demineralization Caused by Mutation in the Glycogen Branching Enzyme Gene White Matter Abnormalities (MRI) Tibial Agenesis Ovoid Tibia Shorter than Fibula Microglossia Lingual Hamartoma Squared Scapulae Leukomalacia Hypoplastic Cerebellar Vermis Dilation of Lateral Ventricles Mutation in the BCS1L Gene Hair Lacks Pigment Sparse Hair Growth Light-Colored Eyes Febrile Attacks Disappear in Adulthood in Some Patients Caused by Mutation in the Mevalonate Kinase Gene Cone Responses on Electroretinography Reduced Intraretinal Pigmentation Benign Trait Mutation in the Dicarbonyl and L-Xylulose Reductase Gene Urine Excretion of L-Xylulose Increased Orotic Acid Urinary Obstruction Caused by Mutation in the Ornithine Aminotransferase Gene May Result in Death in Neonatal Period or Early Childhood Phenotypic Overlap with PKAN Neuroaxonal Dystrophy High Voltage Fast Rhythms Mutation in the ABCC8 Gene Greater Sartorius Involvement than Gracilis Involvement Seen on MRI Nemaline Rods Respiratory Function Decreased due to Muscle Weakness Respiratory Insufficiency due to Muscle Weakness Muscle Weakness Following Prolonged Exercise Mutation in the CHAT Gene Sudden Severe Episodic Apnea May Cause Death Pharyngoesophageal Dyskinesia Progressive Proximal Muscle Involvement Contractures Mutation in the Survival of Motor Neuron 1 Gene Slight Corneal Clouding Mutation in the MOCS2 Gene Sulfite Oxidase Activity Decreased Xanthine Dehydrogenase Activity Decreased Urine Taurine Increased Urine S-Sulfocysteine Increased Elongated Palpebral Fissures Cystic Lysis of the Deep White Matter Absent or Severely Delayed Psychomotor Development Accumulated Lipid Droplets Seen on Muscle Biopsy Cavitating Leukoencephalopathy Apneic Spells Cortical Calcifications Small Echogenic Kidneys Calcification in the Pons and Cerebellum Depigmented Spots Mutation in the Retinoblastoma Binding Protein 8 Gene Absence of a Middle Phalanx on Toes 4 and 5 Slender Fourth Metatarsal
