38701 to 38800 most common queries

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

• Single Finger Flexion Crease on 2nd, 4th and 5th Fingers
• Ammonia not Elevated
• Fungus
• Number of NK Cells Decreased
• Dissection of Descending Aorta
• Respiratory Complex I+III and II+III Activity Decreased
• Adult Onset (3rd to 4th Decade)
• Variable Severity Even within Families
• Excessive Number of Fingerprint Arches
• Hypoplastic Anterior Pituitary
• No Cataracts
• Discrete 2 to 5 mm Hyper and Hypopigmented Macules
• Aneurysm of Interatrial Septum
• Neonatal-Onset Nephrotic Syndrome
• Most Have Onset in First or Second Decade
• Calcitriol Increased
• Ornithine-Delta-Aminotransferase Deficiency
• Normal or Decreased Numbers of Circulating B Cells
• Aneurysm of Descending Aorta
• Brachymetacarpalia
• Juvenile Onset
• Possibly Response to Oral Coenzyme Q
• Respiratory Problems due to Small Thorax
• Growth Hormone Deficiency
• Small Hands (Male and Female)
• Atrial Septal Defect Type 1 or 2
• No Deafness
• Caused by Mutation in the Laminin Beta 2 Gene
• Ornithine Increased (~10-fold)
• Normal Numbers of Circulating T Cells
• Ascending Aorta Dissection
• Short, Clubbed Fingers
• Range of Movement of Proximal Interphalangeal Joints Decreased
• Muscle Wasting Due to Chronic Denervation
• Hip Joint Replacement Often Necessary
• Possibly Death in Childhood due to End Stage Renal Disease
• Creatine Kinase May Be Normal or Elevated
• Granulomatous Tissue
• Defect in Retrograde Intraflagellar Transport in Cilia
• Antiphospholipid Syndrome with Hemolytic Anemia
• Autosomal Recessive Inheritance with Earlier Onset Has Been Suggested
• No Nephritis
• Narrow Iliac Wings (Females)
• Renal Biopsy Shows Diffuse Mesangial Sclerosis
• Blindness - Onset in Fourth or Fifth Decade
• Air-Bone Gap of >20 Db across 0.5-2 kHz
• Progressive Early Onset Myopia
• Short, Mildly Broad Diaphyses
• Radial Head Subluxation
• Peripheral Retinal Pigmentation
• Mutation in the Homolog of the S Cerevisiae COQ6 Gene
• Mutation in the COMP Gene
• Respiratory Muscles May Be Involved
• Onset in Second Decade or as Young Adult
• Lymphocyte Apoptosis Impaired
• Absent or Hypoplastic Frontal Sinuses in Females
• Clinical Overlap with Dejerine-Sottas Syndrome
• Death in First Weeks of Life without Dialysis
• Easy Bruising
• Based on 4 Patients in One Family
• Absent Stapedial Reflexes or Intraoperative Stapes Immobility
• Cleft Lip - Cleft Palate
• Night Blindness (Onset in First Decade)
• Markedly Expanded Cup Shaped Metaphyses in Infancy
• Mild Metaphyseal Changes
• Hip Osteoarthritis (Early Onset)
• Diffuse Mesangial Sclerosis
• Distal Muscle Weakness Occurs Later
• Immunoglobulin Increased
• Severe Epiphora
• Mutation in the RIN2 Gene
• Widened Sutures (Male)
• Mutation in the Myelin Protein Zero Gene
• Deletion of Chromosome 8q24.3 Including the SCRIB and PUF60 Genes
• Flattened Epiphyses around Knee Joint
• Early-Onset End-Stage Renal Disease
• Urine 17-Hydroxycorticosteroid Increased
• Myopia - Onset in First Decade
• Hip Movement Limited
• Bowing of Long Bones, Especially Lower Limb
• Pelvic Girdle Muscle Weakness (Earlier)
• Most Patients Die in First Years of Life
• Cystic Pancreas
• Deposition of IgG and Complement Seen on Renal Biopsy
• Mutation in the EGR2 Gene
• Soft Tissue Growths at Angle of Mouth
• Mild Aortic Dilatation
• Supernumerary Conical Tooth
• Allelic to Retinitis Pigmentosa 35
• Psychomotor Retardation in Those That Survive
• One Patient Described (last Curated: December 2013)
• Mandibular Cyst
• Zinc Increased
• Longer Disease Duration than Creutzfeldt Jakob Disease
• Onset Usually after Viral Infection
• Biliary Dysplasia
• Mutation in the Isoprenoid Synthase Domain Containing Protein Gene
• Final Adult Height 145 - 170 cm
• Other Sensory Modalities May be Normal or Diminished
• Choanal Atresia (Male)