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21101 to 21200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
T Cell Activation Increased
Hyperproliferation of Effector T Cells
T Regulatory Cells Show Poor Function
Levels of Naive T Cells Decreased
Abnormal Lymphocytic Accumulation in Non-Lymphoid Tissue
Peripheral Lymphopenia
Lymphocytic Enteropathy
Lymphocytic Infiltration of the Brain
Wooly Scalp Hair
Normal Granular Layer
Regular Acanthosis
Nonepidermolytic Keratoderma
Pseudoainhum of Fifth Toes
Keratoderma of Soles at Pressure Points
Striated Keratoderma on Palms
Percentage of Naive T Cells Increased
Percentage of Naive B Cells Increased
Memory T Cells Decreased
Recurrent Bacterial and Viral Infections
Marked Ketonuria
Severe Ketoacidosis
Episodes Brought on by Fasting or Infection
Age of Onset within the First Years of Life
Mutation in the Solute Carrier Family 16 Member 1 Gene
Cyclic Vomiting
Mild to Moderate Intellectual Disability - in Homozygotes
Death May Occur in the First Decade
Immunodeficiency Is Progressive
Reduction of Mature B Cells
Mutation in the ZMYND11 Gene
Social Difficulties
Mutation in the Exosome Component 8 Gene
Severe Muscle Atrophy
Loss of Myelin in the Descending Lateral Spinal Cord Tracts
Loss of Myelin in the Cerebral and Cerebellar White Matter
Immature Myelination
Mutation in the CDK6 Gene
Primary Microcephaly
Onset of Disease between 25 and 40 Years of Age
Mutation in the ITM2B Gene
Oscillatory Potentials Decreased to Undetectable
Hyperreflectivity of Nerve Cell Layer
Hyperreflectivity of Ganglion Cell Layer
Subtle Foveal Changes
Relative Central Scotoma
Variable Dysmorphic Features
Mutation in the SET Binding Protein 1 Gene
Variably Dysmorphic Facies
Mutation in the EGFR Gene
Slight Decrease in Number of Gap Junctions
Intercellular Edema from Basal Layer to Mid Spinous Layer
Widening between Adjacent Keratinocytes
Long Eyelashes (Trichomegaly)
Enlarged Kidneys without Obstruction
One Consanguineous Pakistani Family Has Been Reported
Involuntary Mirror Movements Affecting the Hand and Fingers
All Reported Cases Have De Novo Mutations
Multifocal Epileptiform Spikes
Favorable Response to Clonazepam
Variable Duration
Variable Frequency
Onset around Age 2 Years
Episodic Twitching around the Eyes
Mild Dysarthria
Episodic Slurred Speech
Lower Limbs More Severely Affected
Mutation in the ISPD Gene
Myoglobinuria after Exertion
Hypoglycosylation of Alpha-Dystroglycan
Atrophy of Upper Girdle Muscles
Muscle Weakness - Proximal Upper and Lower Limbs Affected
Mutation in the CENPE Gene
Congenital Restrictive Cardiomyopathy
Mild Metaphyseal Sclerosis
Intermittent Nystagmus
Large Appearing Ears
Microcephaly (7 to 9 SD)
Low Weight due to Poor Growth
Short Stature (in 1 of 2 Sibs)
Mild Widening of the Ribs (in 1/2 Sibs)
Simplified Gyral Pattern (in 1 of 2 Sibs)
Flares Triggered by Viral Infection Overexertion Stress
Enterocolitis Tends to Remit with Age
Mutation in the NLRC4 Gene
Episodic Pancytopenia
Episodic Disseminated Intravascular Coagulation
IL1B and Soluble IL2R Increased
Increased IL-18
NK-Cell Dysfunction
NK Cells Decreased
Systemic Autoinflammation
Infantile Secretory Diarrhea
Infantile Enterocolitis
Death in the First Years of Life
Activities of Several Mitochondrial Respiratory Enzymes Decreased
Onset in Late Twenties
Absent or Abnormal Otoacoustic Emissions
Progression to Profound Hearing Loss Affecting All Frequencies
Hearing Loss Initially Affects Mid and High Frequencies
Onset in Infancy - First Year of Life