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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