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