24301 to 24400 most common queries

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

• Midperipheral Intraretinal Pigmentation
• 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