37601 to 37700 most common queries

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

• Large Breast
• Severe Form: No Spontaneous Activity at Birth
• Five Unrelated Patients Reported (as of July 2012)
• UROS Activity Decreased
• Osteopenic Epiphyses
• Symptoms Stabilize Within 4 Weeks
• Nerve Biopsy May Show Demyelination and Remyelination
• Possibly Predominant Liver Disease
• Variable Age at Onset - 2 to 48 Years
• Generalized and Focal Spike-and-Slow-Waves
• Lower Motor Neuron Signs - Later
• N-Acetyl-Alpha-D-Glucosaminidase Deficiency in Fibroblasts
• Slowing of Nail Growth
• Irregular Sciatic Notches
• Enlarged Polycystic Kidneys
• Gingival Hyperplasia (71%)
• Pulmonary Lymphangitic Metastasis
• Mutation in the OTC Gene
• Long Flared Metaphyses
• Non-Progressive Deafness
• Lack of Bunina Bodies
• Mutation in the STUB1 Gene
• Death in the First Decade, Usually due to Liver Failure
• Rapid Initial Onset of Symptoms
• Severe Form May Never Achieve Sitting or Walking
• Early Upper Motor Neuron Signs
• Walking Impairment due to Myoclonus (Late Symptom)
• Trident Acetabulum with Spurs
• Progressive Neurodegeneration
• Paraventricular Cysts
• Thin Upper Lip (29%)
• Onycholysis of Distal Nails
• Metaphyseal Hypostosis
• Plasma Asparagine High
• Profound Sensorineural Prelingual Deafness
• Frontotemporal Dementia
• Bladder Biopsy Abnormal
• Mild Distal Sensory Axonal Neuropathy
• Intrauterine Growth Retardation
• Capillary Malformations Apparent at Birth
• Electroretinogram Response Decreased
• Reye Syndrome-Like Episodes
• Enzyme Replacement Therapy Has Not Been Effective
• Hyperthermia in Early Childhood
• Caused by Mutation in the OFD1 Protein Gene
• Progressive Sclerosis of Facial Bones
• Onset Usually in First to Third Decade of Life
• Caused by Mutation in the Atlastin GTPase 3 Gene
• Cognitive Deficits May Occur
• Anteverted Nares (96%)
• Secondary Tumors Develop within the Skin Lesions
• Variable Age of Onset from 6 to 50 Years of Age
• Lack of Upper Motor Neuron Signs
• Macroscopic Hematuria
• Hippocampal Hypoplasia
• Severe Behavioral Problems at Age 3-4
• Motor Nerve Conduction Velocities Delayed
• Number of Sweat Pores Decreased
• Mutation in the IL21 Gene
• Skin Folds or Creases (Neck or Forearm)
• Onset within First 6 Months of Life
• Shallow Distorted Orbits
• Caused by Mutation in the Nyctalopin Gene (NYX)
• Nasal Bridge Depressed
• Delayed Development May Occur
• Chronic Ulceration due to Sensory Neuropathy
• Variable Extracutaneous Manifestations
• Autosomal Recessive Inheritance of Type 2N
• Mutation in the RAB3 GTPase Activating Protein Subunit 2 Gene
• Adenocarcinoma of the Ampulla of Vater
• Caused by Mutation in the Acylglycerol Kinase Gene
• Four Clinically Indistinguishable Biochemically Distinct Forms
• Two Unrelated Patients Reported (as of April 2014)
• Skin Folds or Creases
• Progressive White Matter Lesions in the Brain
• Flexed Fingers
• Stationary Night Blindness
• Broad Nasal Bridge (95%)
• No History of Familial Hypercholesterolemia
• Dysplastic Enamel
• Allelic Disorder to Autosomal Recessive Ectodermal Dysplasia Type 10B
• Onset of Skin Lesions at Birth
• Anemia Does Not Respond to Alpha Interferon Treatment
• Autosomal Dominant Inheritance in Most Types
• Feeding Difficulties Ameliorate with Age
• Mean Corpuscular Hemoglobin Concentration Decreased
• Absent Visual Evoked Potentials
• Globular Thalamus
• Metachromasia of White Blood Cells and Fibroblasts
• Rapidly Progressive and Severe Sensory Loss
• Dorsally Rotated Ears
• Mild Elbow Contractures
• Abnormally Shaped Mitochondria in Subsarcolemmal Areas
• No Childhood Hypertension
• Broad, Prominent Forehead
• There Are Several Subtypes
• Low-Set Ears (45%)
• Mutation in the KRAS Gene
• Mutation in the Ectodysplasin Anhidrotic Receptor Gene
• Excretion of Heparan Sulfate in Urine