23201 to 23300 most common queries

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

• Dysplasia of the Proximal Femoral Epiphyses
• Limited Supination of the Elbow
• Shortening and Deformity of the Limbs
• Dysplasia of the Hip Acetabulum
• Reduction of the Intervertebral Spaces
• Prenatal Growth Delay
• Mutation in the Zinc Finger and BTB Domain Containing Protein 24 Gene
• Hypomethylation of Satellite Repeats on Chromosomes 1, 9, and 16
• Hypomethylation of Alpha Satellite Repeats on Chromosome 9
• Shank Muscle Mass Decreased
• Amicable Character
• Shy Character
• Inability to Walk Unaided
• Variable Age at Onset, Mostly in Third Decade
• Mutation in the FLNC Gene
• No Dystrophic Changes
• No Rods
• Muscle Biopsy Shows Variation in Fiber Size
• Muscle Atrophy and Fatty Replacement
• Progression to Proximal Muscle Weakness
• Decreased Ability to Run
• Hand Grip Strength Decreased
• Sparing of the Anterior Tibial Compartment
• Onset between Age 4 to 7 Months
• Activity of Cytosolic Acetoacetyl CoA Thiolase Decreased
• Urine Ketones Increased
• Ataxic Movements
• Mutation in the TMEM70 Gene
• Respiratory Chain Complex V Activity Decreased
• Intention Tremor in Those Who Survive
• Ataxia in Those who Survive
• Episodic Encephalopathy Associated with Febrile Illnesses
• Atrial Fibrillation Provoked by Adrenergic Stimulation
• Sweat Electrolytes Normal
• One Patient with a Homozygous Mutation Has Been Reported
• Mutation in the TUBB3 Gene
• Misorientation of Pyramidal Fibers
• Dysmorphic Basal Ganglia
• Dysplastic Cerebellar Vermis
• Gyral Simplification
• Gyral Disorganization
• Perisylvian Polymicrogyria
• Frontoparietal Polymicrogyria
• Complex Cortical Dysgenesis
• Defect in Axonal Guidance
• Caused by Mutation in the GATA-Binding Protein 2 Gene
• Generalized Warts
• Long Tapering Fingers
• Epicanthic Folds
• Profound Congenital Sensorineural Deafness
• Leukotriene C4 Synthetase Deficiency
• Elliptocytosis
• Mild Tricuspid Valve Regurgitation
• Right Ventriculomegaly
• Left Atrial Enlargement
• Left Ventriculomegaly
• Paroxysmal Atrial Flutter
• Onset at Early Age Associated with Sudden Death in Childhood
• Profound Microcephaly
• Abnormal Cortical Layering
• Thin Cerebral Cortex
• Small, Shrunken Brain
• Patients Become Wheelchair-Bound in Second Decade
• Onset of Myoclonus Later in Childhood
• Onset of Ataxia between 1 and 3 Years of Age
• Active Generalized Spikes and Polyspikes
• Variable Tremor
• Mutation in the DNAL1 Gene
• Chronic Pulmonary Insufficiency
• Absence of Outer Dynein Arms
• Immotile or Weakly Motile Cilia
• Defective Platelet Aggregation in Response to Arachidonic Acid
• Fasting Glucose Decreased
• Leptin Level Very Low
• Mobility Restriction of Hands and Fingers
• Mobility of Elbows and Knees Restricted
• Restricted Opening of Mouth
• Phenotypic Overlap with Revesz Syndrome
• Short Fine Hair
• Reticular Pigmentation Pattern
• Blockage of the Lacrimal Ducts
• Autosomal Recessive Inheritance: More Severe Phenotype
• Age at Onset: Childhood to Adulthood
• Highly Variable Phenotype and Severity - Even within Families
• Hyperkeratosis of the Palms
• Reticulated Pigmentation
• Telomerase Activity Decreased
• Avascular Necrosis of the Hip
• Cerebellar Hypoplasia
• Reticulate Skin Pigmentation
• Ectopic Posterior Pituitary
• Bone Spicule Pigment in Periphery
• Waxy Pallor of Optic Discs
• Peripheral Vision Decreased
• Reduced Night Vision
• Mutation in the NCF4 Gene
• Neutrophils Show Defective Intracellular NADPH Oxidase Production
• Chronic Granulomatous Colitis
• Sperm Count Normal or Near-Normal
• Moderate Oligospermia