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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