29801 to 29900 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Short, Muscular Neck
• Delayed Loss of Deciduous Teeth
• Lateral Displacement of Medial Canthi
• Short Stature (<25th Percentile)
• Variable Delay (IQ Range 52-104)
• Distinct Disorder from Reduced Zinc in Breast Milk (608118)
• Maternal Breast Milk Is Protective
• Response to Zinc Supplementation
• Mutation in the Intestinal Zinc Specific Transporter Gene
• Levels of Zinc in Hair Decreased
• Alopecia of Eyelashes
• Alopecia of Eyebrows
• Scalp Alopecia
• Necrosis with Inflammation
• Spongiotic Epidermis
• Symmetric-Pattern Dermatitis
• Mucosal Alkaline Phosphatase Decreased
• Plasma Zinc Levels Decreased
• Frequent Candida Infections
• T Cell Function Impaired
• Taste Impaired
• Intestinal Uptake of Zinc Decreased
• Secondary Sexual Characteristics in Males Delayed
• Testosterone Decreased in Males
• Short Cuboidal Metacarpals
• Nine Carpal Bones
• Short Thumbs and Fingers
• Very Short Fibulae
• Joint Dislocations - Elbow Knee Ankle
• High Disease Prevalence Among French Canadians
• Ulcerations of Distal Extremities
• Patchy Anhidrosis
• Neurogenic Joint Degeneration
• Autonomic Involvement Not in All Cases
• Absence of Cutaneous Sensory Receptors and Fibers
• Some Loss of Unmyelinated Fibers
• Severe Loss of Myelinated Fibers (Sural Nerve Biopsy)
• Corneal Reflex Impaired
• Trunk May be Involved Later
• Impaired Sensation in Distal Extremities
• Urine and Plasma Ketones Absent to Trace
• Onset Precipitated by Fasting or Illness
• Most Common Disorder of Fatty Acid Oxidation (1 in 13,000 Births)
• Acylglycinuria
• Blood Ammonia Mildly Elevated
• Developmental Delay (if Untreated)
• Creatine Kinase in Patients with Muscle Involvement Increased
• Exercise-Induced Myoglobinuria in Adults
• Rhabdomyolysis with Exercise
• Muscle Stiffness
• Muscle Weakness Associated with Fasting or Infection
• Majority of POR Deficiency Patients Have an ABS-Like Phenotype
• See Also Antley Bixler Syndrome with Normal Steroidogenesis
• Pregnenolone Increased
• Adrenocorticotropin Mildly Increased
• Blunted Cortisol Response to Adrenocorticotropic Hormone
• Baseline Cortisol Normal
• Elbow Synostosis
• Maternal Estriol Low
• Maternal Virilization - Midpregnancy
• Single Urogenital Orifice
• Fused Labia
• Mutation in the CYP11B1 Gene
• 11-Deoxycortisol Increased
• 11 Deoxycorticosterone Increased
• Fused Labial-Scrotal Folds
• Ambiguous Genitalia due to Virilization
• Frontal Proboscis
• High Frequency in Equatorial Africa
• Pigmentation of Hair Bulbs upon Incubation with Tyrosine
• Gene Frequency in Northwest Puerto Rico 1 in 18
• Hair Color White to Brown
• Freckles in Sun-Exposed Areas
• Tanning Possible
• Creamy White Skin
• Pigmented Reticuloendothelial Cells
• Normal Prothrombin and Partial Chromoplastin Times
• Absent Dense Bodies In Platelets
• Tyrosinase-Positive Hair Bulbs
• Iris Color Blue to Brown
• Macular Translucency
• Urinary Cyclic AMP Response to PTH Administration Normal or Increased
• Urine 17-Ketosteroids Normal
• Decreased Serum 18-OHB
• Ratio of Corticosterone : 18-Hydroxycorticosterone Increased
• Death by Age 5
• Average Age of Onset 6 Months
• Mutations in the GFAP Gene
• Glial Fibrillary Acidic Protein in Astrocytes
• Presence of Rosenthal Fibers in Astrocytes
• Onset of Joint Symptoms in 3rd-4th Decade
• Liver Homogentisate-1,2-Dioxygenase Activity Decreased
• Urine Homogentisic Acid Increased
• Homogentisic Acid Increased
• Lumbar Flexion Decreased
• Chronic Joint Pain
• Height Loss Secondary to Spinal Changes
• Ochronotic Prostate Stones
• Sensitivity to Valproic Acid Toxicity
• Death Usually by Age 3 Years