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38101 to 38200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Intracellular Redox Disturbance
Lysine Increased
Alanine Increased
Pyruvate Carboxylase Activity Decreased
Poor Myelination
Cystic Lesions Consistent with Leigh Syndrome
Mutations in the PKRL Gene
Erythrocyte Osmotic Fragility Increased
Severity of Anemia Can Range from Mild to Life Threatening
Erythrocyte Pyruvate Kinase Activity Decreased
Frequency of Infections Decreases after 3 Years of Age
Lewis A and B Negative Cells
Red Blood Cells Lack H-Antigen
Bombay Blood Phenotype
Neutrophilia - Both Basal and during Infections
Absence of Pus Formation at Site of Infection
Absent Sialyl-Lewis X Ligand Expression
Neutrophil Adherence Mildly Decreased
Neutrophil Motility Markedly Reduced
Angiokeratomas of Soles
Telangiectasia (Soles)
Gingival Biopsy Shows Hyperkeratosis Acanthosis Papillomatosis
Gingival Fibromatosis
Fibroepithelial Hyperplasia of Labia Minora
Death in the First Few Weeks of Life
Absent Bone Marrow Myeloid Elements
Absent Humoral Immunity
Lymphoid Hypoplasia
Pleocytosis in Cerebrospinal Fluid Especially Lymphocytes
Reduced T Cell Cytotoxicity
NK Cell Cytotoxicity Decreased
Activated HLA DR+ T Cells in Peripheral Blood
Midline Occipital Bone Defect
Subependymal Heterotopic Nodules
Insulin Receptor Binding Decreased
Sparse Fine Hair
Ridged Fingernails
Bilateral Subretinal Masses
Mutation in the ESCO2 Gene
Silvery Blonde Scalp Hair
Nuclear Morphology Abnormal
Reduction in Number of Toes
Absence or Reduction in Length of Femur Tibia or Fibula
Absence or Reduction in Length of Humerus, Radius or Ulna
Tetraphocomelia
Hypomelia
Narrow Naris
Absent Earlobe
Rudimentary Gallbladder
Postnatal Growth Deficiency
Birth Weight 1.5 - 2.2 kg
Birth Length Less than 40 cm
Labia Minora Enlarged
Epiglottis Absent or Abnormal
Short Round Larynx
Hypoplastic Phalanges (First Digit)
Lower Central Incisors Absent
Long Palpebral Fissures
Flat Facial Profile
Short Stature - Postnatal Onset
Atrophic Nails
Poikiloderma
Erythematous Skin Lesions In Infancy
Forearm Reduction Defects
Multiple Crown Malformations
Small Saddle Nose
Juvenile Zonular Cataracts
Silvery Blond Hair
Absence of Radius and Ulna
Absent Lobules
Hypoplastic First Metacarpals
Advanced Ossification of Carpal Bones
Dumbbell-Shaped Short Long Bones
Snail-Shaped Ilia
Sacral Stenosis
Round Vertebral Bodies
Stillborn or Lethal in the Neonatal Period
Short Splayed Ribs
Often Transient Facial Palsy in Infancy
Sudden Death Secondary to Impaction of Medulla Oblongata
Majority of Cases in the Afrikaner Population of South Africa
Caused by Mutations in the Sclerostin Gene (SOST)
Deviation of Terminal Phalanges
Lack of Diaphyseal Modeling
Cortically Dense Long Tubular Bones
Sclerotic Pelvis
Sclerotic Pedicles
Occlusion of Cranial Foramina
Infantile-Onset Cranial Hyperostosis
Prominent Asymmetric Mandible
Broad Flat Nasal Root
Deafness Secondary to Cranial Hyperostosis
Frontal Prominence
Mild or Moderate Gigantism
Broad Dense Ribs
Broad, Dense Clavicles
Facial Palsy Secondary to Cranial Hyperostosis
Caused by Mutations in the Seipin Gene
Nearly Complete Absence of Mechanical Adipose Tissue
See EBN1 for an Autosomal Dominant Form