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27701 to 27800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Longitudinal Splitting of the Proximal Phalanx of Forefinger
Supernumerary Carpal Ossification Centers
Irregular Size of the Metacarpal Epiphyses
Hitch-Hiker Appearance of the Thumb
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
Posterior Cleft Palate
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
Inability to Jump or Squat
Decreased Ability to Run
Weakness of Hip Flexors
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
Thin Flat Upper Lip
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
Fusion of the Basal Ganglia
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
Intraventricular Conduction Delay
Paroxysmal Atrial Flutter
Onset at Early Age Associated with Sudden Death in Childhood
Borderline Prolonged QT Interval
Profound Microcephaly
Numbers of Neurons Reduced
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
EEG Shows Photosensitivity
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
25-OH-Vitamin D Decreased
Leptin Level Very Low
Mobility Restriction of Hands and Fingers
Mobility of Elbows and Knees Restricted
Widely Open Cranial Sutures
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
Gray Forelock