22801 to 22900 most common queries

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

• Myoclonic Seizures
• Median Age at Onset of Proteinuria: 18 Years (Range: 10-21)
• Caused by Mutation in the Inverted Formin 2 Gene
• Distal Upper and Lower Limbs Amyotrophy
• Sural Nerve Biopsy Shows Axonal Loss
• Distal Limb Muscle Weakness due to Peripheral Neuropathy
• Decreased Basal Metabolic Rate
• Resting Blood Pressure Low
• Low Resting Heart Rate
• Mild Hypermobility and Ligamentous Laxity at Knee and Ankle
• Subischial Leg Length with Normal Sitting Height Decreased
• Multiple Wormian Bones
• Fusion of Cranial Sutures Delayed
• Intestinal Transit Delayed
• Growth Deficit Affecting Lower Segment of Body
• Muscle Tone Reduced but Power Normal
• Placid Affect
• Slow Broad-Based Gait
• Difficulty with Writing and Drawing
• Gross and Fine Motor Coordination Impaired
• Insulin-Like Growth Factor Slightly Decreased
• Normal Growth Hormone Response to Provocative Testing
• Sex Hormone Binding Globulin Markedly Elevated
• Total Thyroxine to Total Triiodothyronine Ratio Markedly Low
• Total and Free Thyroxine Low Normal or Subnormal
• Manifestations Present in Second Decade of Life
• Urine PGE-M Relatively Low
• Urine PGE2 Levels Elevated
• Cortical Thickening and Acroosteolysis
• Loss of Normal Tabulation of Metacarpals and Phalanges
• Sclerosis of Distal Tibiofibular Joint
• Periosteal Hyperostosis of Knee
• Progressive Thickening and Furrowing of Facial Skin
• Mutation in the NK2 Homeobox 5 Gene
• Abnormal Pulmonary Venous Return to Right Atria
• Sinus Venosus Type Atrial Septal Defect
• Atrial Septal Defect Type Secundum
• Rastelli Type A Endocardial Cushion Defect
• Mutation in the GATA4 Gene
• Atrioventricular Conduction Defect
• Death Often Occurs in the First Decade
• Caused by Mutation in the Transmembrane Protein 237
• Morning Glory Disc Anomaly
• Cerebellar Vermis Aplasia or Hypoplasia
• Small Midbrain
• Posterior Fossa Abnormalities
• Severely to Profoundly Delayed Psychomotor Development
• Cuneiform Opacities in Lens Periphery
• Blue-White Dots Throughout Lens More Numerous in Cortex
• Increased Pigmented Nevi
• Carpal Bone Development Advanced Over That of Other Hand Bones
• Systemic Childhood Onset Lupus Erythematosus
• Seizures Remit in Later Childhood
• Mutation in the Carboxypeptidase A6 Gene
• Temporal Lobe Seizures
• Structural Changes in the Temporal Lobe
• Phenotype Is Worsened by Cold Temperature
• Angiomatous Lesions on the Fingers Persistent
• Severe to Profound Hearing Loss Affecting all Frequencies
• Cerebral Atrophy Mild
• Creatine Kinase Variably Increased
• Centralized Internal Nuclei Increased
• Muscle Cramps during Exercise
• Lower Limbs Muscle Weakness during Exercise
• Skin Mottling due to Poor Perfusion
• Thin Long Eyebrows
• Progressive Severe Microcephaly
• Insulin-Dependent Diabetes Mellitus
• Fiber Necrosis
• Small and Incompletely Fused Muscle Fibers Seen on Biopsy
• Onset in First Days of Life
• Mutation in the DNM1L Gene
• Defect in Mitochondrial and Peroxisomal Fission
• Fibroblasts Show Decreased Peroxisomes Arranged in Rows
• Brain MRI Shows Abnormal Gyral Pattern in Frontal Lobes
• Little Spontaneous Movement
• No Developmental Progress
• Mutation in the Complement Component 4A Gene
• Mutation in the WDR19 Gene
• Recurrent Asthma
• Thick Nails
• Small Second through Fifth Toes
• Short Phalanges (2nd and 5th Digits)
• Bilateral Hip Dysplasia
• Sagittal Craniosynostosis
• Taurodontism of Molars
• Bony Protrusion of Hard Palate
• Congenital Nyctalopia
• Retinitis Pigmentosa with Preserved Central Vision
• Full Cheeks
• Short Thick Ribs
• Short Narrow Thorax
• Sclerotic Glomeruli
• Mutation in the WD Repeat Containing Protein 19 Gene
• Restrictive Reduced Lung Volume
• Small Dysplastic Epiphysis of Distal Tibia
• Small Dysplastic Epiphysis of Distal Radius
• Short, Broad Diaphyses
• Spur-Like Protrusions at Acetabular Roof
• Wide Bridge