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35501 to 35600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Cholestanol Increased
Cholesterol Normal to Slightly Increased
Tendon Xanthomas
Spinal Cord Paresis
Elevated Scapulae
Occasionally Misdiagnosis of Down Syndrome
Death Usually in First Year of Life
Plasmalogen Decreased
Iron and Iron-Binding Capacity Increased
Long-Chain Fatty Acids Increased
Dihydroxyacetone Phosphate Acyltransferase Activity Decreased
Stippled Epiphyses (Patellar and Acetabular Regions)
Pyloric Hypertrophy
Absent Liver Peroxisomes
Absent Renal Peroxisomes
Limited Range of Neck Motion
Ankyloblepharon Filiform
Rapid Progression to Disability
Mutation in the GDAP1 Gene
Kyphoscoliosis May Occur
Inability to Walk by Childhood or Adolescence
May Progress to Involve Proximal Muscles
May Be Same Entity as Elejalde Syndrome
Leukocytes with Giant Inclusion Bodies
Erythrophagocytosis in Late Phase
Generalized Lymphohistiocytic Infiltrates in Late Phase
Lymphadenopathy in Late Phase
Neutrophil and Monocyte Migration and Chemotaxis Decreased
Normal B Cell Function
Absent Natural Killer Cell Cytotoxicity
Recurrent Cutaneous and Systemic Pyogenic Infections
Pseudomembranous Sloughing of Buccal Mucosa
Progressive Peripheral Neuropathy
Giant Granules in Schwann Cells
Diffuse Brain and Spinal Cord Atrophy (CT or MRI)
Nerve Conduction Velocities Severely Decreased
Progressive Intellectual Decline
Onset of Cholestatic Jaundice at 2-4 Weeks of Age - Resolving during Childhood
Onset of Lymphedema before Puberty
Infantile Malabsorption
Inactivating Mutations in the PTH1R Gene
Mutations in the Parathyroid Hormone Receptor 1 Gene
Square Ilia
Advanced Skeletal Maturation
Generalized Sclerosis
Severe Midface Hypoplasia
Death at Birth or Shortly after Birth
Anterior Rib Widening
Majority of Children Die before Age 2
3-Oxoacyl-CoA-Thiolase Unprocessed
Acyl-CoA:Dihydroxyacetonephosphate Acyltransferase Deficiency
Plasmalogen Deficiency
Epiphyseal Calcification
Disappearance of Stippling in First Year of Life
Severe Delay in Myelination
Mutation in the Lamin B Receptor
Moth-Eaten Fragmented Long Bones
Punctate Calcifications in Iliac Apophysis, Ischium and Pubis
Platyspondyly with Multiple Extra Ossification Centers
Mutation in the Collagen XI Alpha 2 Polypeptide Gene
Recurrent Pulmonary Infections
Wide, Flat Epiphyses
Absent-Small Capital Femoral Epiphyses
Enlarged Joints
Square Iliac Wings
Anterior Vertebral Wedging
Enlarged Odontoid Process
Vertebral Coronal Clefts (Newborn)
No Ocular Symptoms
Mutation in the ASS Gene
Hepatic Argininosuccinate Synthetase Deficiency
Citrulline Increased (1-5 mM)
Sparse Eyelashes and Eyebrows
Aplasia or Hypoplasia of the Nails
Short Tapering Toes
Association of Cardiac Events with Exercise
Onset Possibly in Early Infancy, Adolescence, or Adulthood
Onset Usually in Late Infancy or Childhood
Mutation in the EIF2B2 Gene
Possibly Blindness
Cessation of Head Growth in Affected Infants
MRS Shows Decreased Creatine in White Matter
Decreased Choline in Affected White Matter (MRI)
Decreased Amount of Myelin Specific Lipids
Amount of Myelin-Specific Proteins Decreased
White Matter Rarefaction and Cystic Degeneration
Biopsy: Foamy Lipid Laden Macrophages
Severe Leukoencephalopathy
Mild Mental Decline
Developmental Regression in Affected Children
Mutations in the Caspase 10 Gene
Vasculitic Rash
Anti-Factor VIII Antibodies
Anti-SSB Positive
Antiribonuclear Protein-Positive
Phospholipid Antibody Positive
Levels of IgG Increased
Proportion of HLA-DR+ and CD57+ T Cells Increased
B-Cell Count Increased
Number of Peripheral CD3+ T Cells Increased