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23101 to 23200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Severely Reduced Response to Candida and Tetanus Toxoid Antigens
Response to Mitogens Severely Decreased
CD3 T Lymphocyte Counts Reduced
CD4 T-Lymphocyte Counts Reduced
Mutation in the Ferritin Heavy Chain 1 Gene
No Abnormalities
Total Iron-Binding Capacity Elevated
Iron Deposition in Macrophages
Iron Deposition in Some Kupffer Cells
Heavy Iron Deposition in Most Hepatocytes
Mutation in the HERC2 Gene
Adaptive Hand Use Delayed
Lower Motor Neuron Degeneration
Upper Motor Neuron Degeneration
Transferrin Profiles Normal
No Adrenal Insufficiency
Possibly Death in Early Childhood in Homozygotes
Heterozygous Carriers Exhibit Palmoplantar Hyperkeratosis
Uneven Distribution of Desmosomes in Upper Epidermis
Subcorneal and Intragranular Separation
Widespread Acantholysis within Spinous and Granular Layers
Alternating Hypogranulosis and Hypergranulosis
Alternating Parakeratosis and Orthokeratosis
Hyperkeratosis of Weight-Bearing Areas of Soles
Erythroderma Generalized Congenital
Severe Hypernatremia in Neonatal Period
Recurrent Skin and Respiratory Infections
IgE Levels Markedly Elevated
Slight Corkscrew Appearance of Branches of Hepatic Artery (MRI)
Heterogeneous Arterial Phase on MRI
Cutaneous Telangiectases
Mutation in the SPAG1 Gene
Ciliary Motility Decreased
Mutation in the CCDC65 Gene
Dyskinetic Ciliary Motility
Microtubule Disorganization in Some Cilia
Mutation in the WD Repeat Containing Protein 60 Gene
Hypoplastic Trabecular Bone
Conical Epiphyses
Prenatal Ultrasound Shows Short Long Bones
Prominent Bile Duct Plates
Hepatomegaly with Ductal Plate Malformation
Handlebar Clavicles
Focal Cystic Changes
Mild Dilation of Renal Tubules
Mutation in the CCCTC-Binding Factor Gene
Mild Aortic Coarctation
Small Teeth (Incisors Spared)
Prominent Incisors
Caused by Mutation in the Ankyrin 3 Gene (ANK3 600465-0001)
Onset of Visual Loss in Childhood
Mutation in the UCHL1 Gene
Impaired Distal Sensation to Vibration and Position
Myotonia
Inability to Stand without Assistance
Mutation in the Tripartite Motif Containing Protein 2 Gene
Slight Build
Atrophy of the Small Muscles in the Hands and Feet
Swollen Myelinated Fibers
Accumulation of Neurofilaments within Axons
Non-Specific Axonal Degeneration (Sural Nerve Biopsy)
Sensory and Motor Nerve Amplitudes Decreased
Inability to Walk on Heels
Muscle Weakness and Atrophy - Upper and Lower Limbs
Mean Age at Onset: 23.9 Years
Orobuccal Dyskinesia
Possibly Calcification in Cerebellum, Thalamus, White Matter
Mutation in the Dyslexia Susceptibility 1 Candidate 1 Gene
Recurrent Respiratory Infections due to Defective Cilia Function
Inner and Outer Dynein Arm Defects in Cilia
Mutation in the RSPH1 Gene
Recurrent Respiratory Infections due to Defective Ciliary Clearance
Some Cilia Show Central Complex and Radial Spoke Defects
Some Cilia Show Abnormal Beating Patterns or Immotility
Onset of Seizures in First Months or Years of Life
Laterally Placed Eyebrows
Persistent Cavum Septi Pellucidi
MRI Shows Short, Thick Corpus Callosum
Slowed Background Activity
Abnormal Spikes
Second Degree Heart Block
Verbal Outbursts
Mild Athetosis
Aldosterone/Renin Ratio Increased
Aldosterone Elevated
Multifocal Spikes
Fragmentation of the Mitochondrial Network
Depletion of mtDNA (Skeletal Muscle, Fibroblasts)
White Matter Lesions in the Basal Ganglia
Brain Stem White Matter Lesions
Poor Antibody Response
Normal Numbers of Lymphocytes
Fine Punctate Lens Opacities
Episodic Decompensation Is Usually Triggered by Illness
Caused by Mutation in the Cytochrome-C1 Gene
Episodically Abnormal Liver Enzymes
Episodic Hyperammonemia
Episodic Acute Liver Failure
Coma during Episodes
Encephalopathy during Episodes