20801 to 20900 most common queries

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

• Overriding Lambdoid Sutures
• Mutation in the RBBP8 Gene
• Bilateral Hallux Duplication
• Caused by Mutation in the SAL-Like Protein 2 Gene
• Lymphoid Nodules on Respiratory Mucosal Surfaces
• Patellar Hypoplasia or Aplasia
• Puberty Delayed or Absent
• Limbitis
• 78% due to Chromosome 14 Maternal Uniparental Disomy
• Early Onset Type 2 Diabetes
• Mutation in the GTPBP3 Gene
• Muscle Amyotrophy
• Leukonychia More Pronounced on Fingernails than Toenails
• Frequent Staphylococcus Aureus Infections
• Dysexecutive Behavior
• Osteochondritis Dissecans of the Hip
• Limbs Fixed in External Rotation
• Onset at Age 5-10 Years
• Mutation in the CHST8 Gene
• No Pruritis
• No Erythema
• Variable Presentation
• Moderate-Low Complement C3
• Positive Anti-Nucleus Antibodies
• Recurrent Stomatitis
• Head Circumference at Birth > 97th Percentile
• Birthweight >97th Percentile
• Birth Length > 97th Percentile
• Mild Hydrocephaly
• Small Size of the Left Hippocampus Gyri
• Anomalies of the Temporal Area
• Anomalies of the Folding of the Right Sylvian Area
• Cavum Septum Pellucidum Atrophy
• Multiple Lesions in the White Matter
• Mutation in the Kinesin Family Member 14 Gene
• Broad Nasal Root
• Anteverted Nose
• Ureteral Hypoplasia
• Arhinencephaly
• Agenesis of the Occipital Lobes
• Mutation in the CALM2 Gene
• Exercise Induced Polymorphic Ventricular Ectopy
• Fetal Bradycardia
• No Respiratory Effort at Birth
• Fixed Flexion of Hands
• Fixed Extension Deformity of Knees
• Severely Adducted Lower Limbs
• Fixed Flexion Deformity at Hips
• Severe Polyhydramnios
• Developmental Delay after Multiple Episodes of Cardiac Arrest
• Caused by Mutation in the Calmodulin 1 Gene
• 2:1 Atrioventricular Block
• Syncopal Episodes
• Non-Sustained Ventricular Tachycardia
• Recurrent Episodes of Ventricular Fibrillation
• Fatty Changes
• Tubulopathy
• Structurally Abnormal Mitochondria
• Combined Deficiency of Oxidative Phosphorylation Complexes I and IV
• Vacuolization
• Neuronal Loss
• Neurodegeneration
• Cerebral Cortical and Cerebellar Atrophy
• Profound Psychomotor Development Delay
• Mild Intellectual Disability
• Onset 23 to 30 Years
• Toe and Foot Dorsiflexor Weakness
• Knee and Hip Flexor Weakness due to Peripheral Neuropathy
• Hyporeflexia or Areflexia in Upper and Lower Limbs
• Adult Onset of Muscle Symptoms
• Mutation in the CASQ1 Gene
• Enlarged Vesicles of Sarcoplasmic Reticulum Origin
• Terminal Cisternae of the Sarcoplasmic Reticulum Enlarged
• Abnormal Sarcoplasmic Reticulum Elements
• Density of Calcium Release Units Decreased
• CASQ1-Immunopositive Inclusions
• Rare Necrotic Fibers
• Muscle Biopsy Shows Vacuoles Predominantly in Type 2 Fibers
• Upper and-or Lower Limbs May Be Affected
• Onset between 6 and 16 Years of Age
• Caused by Mutation in the Ceramide Synthase 1 Gene
• Mild Cerebellar and Brainstem Atrophy
• Heterozygotes Exhibit Blue Sclerae and Soft, Velvety Skin
• Accordion Like Broadened Appearance of Tubular Bones
• Multiple Fractures of Extremities - May Occur in Utero
• Fontanels Widely Open
• Soft Calvarial Bones
• Favorable Response to Anticholinesterase Medication
• Mutation in the Homolog of the S Cerevisiae ALG2 Gene
• Serum Transferrin Shows Normal or Mild Hypo-Glycosylation
• Distal Joint Laxity
• Tubular Aggregates
• Subsarcolemmal Accumulation of Normal Mitochondria
• Jitter
• Mild Learning Difficulties
• Percentages Based on 51 Published Cases (PMID 24891339)
• 10% due to Paternal Deletion
• 12% due to Epimutation
• Caused by Imprinting Defect on Chromosome 14q32
• High-Pitched Nasal Speech