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21401 to 21500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Coxa Valga Deformity with Epiphyseal Dysplasia
Onset in the Second or Third Decade of Life
Diminished or Undetectable Responses in ERG
Peripheral Pigment Deposits
Narrowed Vasculature
Retinal Degeneration with Macular Involvement
Central Vision Impaired
Restricted Visual Fields
Predisposition to UV Induced Malignancies
Short Stature (3.8-5.2 SD)
Death in First Months of Life
Mutation in the TARS2 Gene
Subsarcolemmal Lipofuscin-Positive Deposits
Cerebral Spongiosis
Hyperintense Lesions of the Globi Pallidi
Caused by Mutation in the valyl-tRNA Synthetase 2 Gene
Possibly Deficiency of Multiple Mitochondrial Respiratory Complexes
White Matter Abnormalities in the Periventricular Regions
Onset in Childhood or Adolescence in Most Patients
Mild to Severe Mitral Regurgitation
Mutation in the CHCHD10 Gene
Combined Mitochondrial Respiratory Chain Deficiency
Paracrystalline Inclusions
Fragmented Mitochondrial Network
Abnormal Mitochondria Morphology
Lipid and Glycogen Accumulation
Most Cases Are Responsive to Steroids
No Dysmorphic Features
Mutation in the Ribosomal Protein S29 Gene
Risk of Cancer Possibly Increased
Upslanting Toenails
Deep Skin Creases in Toes
Cellulitis Over Affected Area
Fibrosis Over Affected Area
Papillomatosis over Affected Area
Hyperkeratosis Over Affected Area
Evidence of Lymphatic Rerouting
Tortuous Lymphatic Tracts
Lymphoscintigraphy Shows Impaired Lymphatic Uptake and Drainage
Prominent Veins - Lower Limbs
Severity and Frequency of Seizures Improve with Age
Poorly Responsive Seizures
Onset in the First Hours or Days of Life
Mutation in the SLC13A5 Gene
Lack of Speech Acquisition
Amylopectinosis (Biopsy)
Hyper IgA
Polyglucosan Accumulation
Ambulation Due to Muscle Weakness Impaired
Earlier Onset May Occur
Onset Usually in Young Adulthood
Caused by Mutation in the Alanyl-tRNA Synthetase 2 Gene
Isolated Mitochondrial Complex IV Deficiency Seen on Biopsy
Deep White Matter Changes
Loss of Motor Skills
Delayed Development in Early Childhood
Mutation in the RASGRP2 Gene
Impaired Platelet Aggregation and Spreading
Mucocutaneous Bleeding due to Platelet Dysfunction
Premature Loss of Enamel
Normal Enamel Volume
Discolored Enamel (Yellow Brown)
Caused by Mutation in the Ribosomal Protein L21 Gene
Hair Follicles Significantly Decreased in Number and Size
Thin Hair Shafts without other Characteristic Features
Axillary and Pubic Hair Sparse or Absent
Sparse or Absent Body Hair
Sparse or Absent Eyebrows and Eyelashes
Beard Hair Unaffected
No Hair Regrowth
Thin Fragile and Dry Hair
Slow-Growing Hair of Normal Length
Progressive Hair Loss from 2-6 Months of Age
Normal Scalp Hair Density at Birth
Normal Beard Hair
Aggregates Contain Granular Electron Dense Material
Tubular Aggregates Mainly in Type 1 Fibers
Atrophic Muscle Fibers
Abnormal Fiber Size Variation (Muscle Biopsy)
All Reported Cases Result from De Novo Mutation
Mutation in the DNMT3A Gene
Heavy, Horizontal Eyebrows
Tall Stature (3 SD)
Intellectual Disability Mild to Moderate
Mutation in the Tight Junction Protein 2 Gene
Gamma-Glutamyltransferase Normal or Mildly Increased
Mutation in the ADNP Gene
Caused by Mutation in the Cyclin O Gene
Deterioration of Lung Function
Numbers of Motile Cilia in Respiratory Epithelial Cells Decreased
Seizures Tend to Become More Focal with Age
Mutation in the HCN1 Gene
One Patient Died at 17 Months of Age
Mutation in the DGAT1 Gene
Total Cholesterol Elevated - Seen in Heterozygotes As Well
Parenteral Nutritional Support Required
Patchy Areas of Villous Atrophy
Patchy Areas of Dystrophic Microvilli in Duodenum
Congenital Watery Diarrhea
Failure to Thrive Secondary to Congenital Diarrhea