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35401 to 35500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Majority of Children Die at Age 6 Months to 5 Years
Severe Autoimmune Cytopenia
Panhypogammaglobulinemia or Agammaglobulinemia
Reduced CD4+ Count and Proportionally Increased CD8+ Count
Normal Number of T and B Lymphocytes
Susceptible to Vaccine-Induced Polio
Frequent Protozoan, Bacterial, Viral, and Fungal Infections
Absence of Humoral and Cellular Immune Response to Foreign Antigens
Severe Colitis
Variable Degree of Villous Atrophy
Pseudosclerosing Cholangitis
Progressive Liver Disease
Enteric Salmonellosis
Onset Early in First Decade
Contractures of the Lower Limbs
Posterior Column Sensory Loss
Metabolic Decompensation Precipitated by Illness
Episodic Metabolic Acidosis
Not Responsive to Biotin Treatment
May Be Present in Asymptomatic Adults
Possibly Episodes of Severe Metabolic Decompensation in Infancy
3-Methylcrotonyl-CoA Carboxylase Activity Decreased (<2%)
Acute Ketonuria
Acute Hyperammonemia
Secondary Decrease of Plasma Free Carnitine
Chronic Renal Excretion of 3-Hydroxyisovaleric Acid
Chronic Urinary Excretion of 3-Methylcrotonylglycine
Acute Macro- and Microvesicular Steatosis
Neurologic Sequelae Not Always Present
Other Half Show Head Circumference More Retarded than Height
Mutation in the ATR Gene
Sister Chromatid Exchange Increased
Cone-Shaped Epiphyses of Phalanges
Ivory Epiphyses (phalanges)
Relatively Large Eyes
Absence of Earlobe
Low-Set, Malformed Ears
Average Birth Weight 1540 g
Arachnoidal Cysts
Death Often Secondary to Infectious Disease
Infants Are Stillborn or Die before Age 1
Relatively Large Feet
Relatively Large Hands
Horizontal Iliac Wings
Steep Skull Base
Large Fleshy Nose
Focal Medullary Hypoplasia
Thin Diaphyses of Long Bones
Delayed and Dysharmonic Bone Age
Severe Osteoporosis
Steep Narrow Forehead
V-Pattern Esotropia
Predisposition to Neoplasia
Life-Threatening Infections
IgA IgG IgM Decreased
High Frequency of Chromosome Breaks in Lymphocytes
SCE Normal in Heterozygotes
High Rate of Sister Chromatid Exchange
Impaired Lymphocyte Proliferation in Response to Malignancy
Immunoglobulin Deficiency (IgA, IgG, IgM)
Hypersensitivity to Chemotherapy
Average Adult Female Height 144 cm
Average Adult Male Height 151cm
Dimples
Short Dumbbell-Shaped Humeri
Bowing of Radius
Bowed Limbs - Lower Greater than Upper Limbs
Short Wide Iliac Wings
Anteriorly Cupped Ribs
Wavy Short Ribs
No Pubic Hair
Short Toes - 2nd-5th
Tarsal Hypoplasia
Thin Eyelashes
Unpigmented Areola
Terminal Transverse Limb Reduction
Anomalous Ribs
Short Metatarsals - 4th and 5th
Camptodactyly (2nd - 5th Fingers)
Hypoplastic 5th Lumbar Vertebrae
Frontal and Ethmoidal Sinuses Absent
Small Downturned Mouth
Downslanting Ribs
Mortality Approximately 20% in First 2 Years
Orange Peel Skin
Phosphomannomutase Deficiency in Leukocytes Fibroblasts or Liver
Copper Iron Zinc Decreased
Factors IX - XI - XII Decreased
GlcNAc Transferase II Deficiency in Fibroblasts and Mononuclear Cells
Soft Tissue Tumors of the Tongue
Rhythmic Tongue Movements
'Tilted' Ears
Occipital Myelomeningocele
Occipital Meningocele
See also Childhood-Onset Form
Asymptomatic Younger Patients Show Characteristic Basal Ganglia Calcifications
Phosphorus Normal
Calcification of Small Brain Vessels
CT Scan Shows Dense Calcifications in the Basal Ganglia
Urine 7α-Hydroxylated Bile Alcohols Increased