×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
35201 to 35300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Taste Impaired
Intestinal Uptake of Zinc Decreased
Mental Lethargy
Secondary Sexual Characteristics in Males Delayed
Testosterone Decreased in Males
Ball-Shaped Toes
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)
Gag Reflex Impaired
Corneal Reflex Impaired
Trunk May be Involved Later
Impaired Sensation in Distal Extremities
Mild Metabolic Acidosis
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
17-Hydroxyprogesterone Elevated
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
Rudimentary Uterus and Vagina
Fused Labial-Scrotal Folds
Ambiguous Genitalia due to Virilization
Frontal Proboscis
High Frequency in Equatorial Africa
Pigmentation of Hair Bulbs upon Incubation with Tyrosine
Irides Blue Gray to Light Brown
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
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
Coarsened Pattern of Sulci and Gyri
Onset of Joint Symptoms in 3rd-4th Decade
Urine Turns Dark on Standing and Alkalinization
Liver Homogentisate-1,2-Dioxygenase Activity Decreased
Urine Homogentisic Acid Increased
Homogentisic Acid Increased
Lumbar Flexion Decreased
Chronic Joint Pain
Pigmentation of the Ear Cartilage
Height Loss Secondary to Spinal Changes
Ochronotic Prostate Stones
Sensitivity to Valproic Acid Toxicity
Death Usually by Age 3 Years
Onset in Infancy after Normal Birth and Neonatal Period
DNA Polymerase Gamma Activity Decreased
Abnormal Visual Evoked Potential
Abnormal Bile Duct Architecture
Hepatocyte Dropout
Microvesicular Steatosis (Biopsy)
Slow-Frequency High-Amplitude Waves with High-Frequency Polyspikes
Pseudolaminar Spongiform Changes
Sudden-Onset Drug-Resistant Seizures
Infections May Precipitate Ketotic Episodes
Onset at Age 5-24 Months