30601 to 30700 most common queries

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

• Prothrombin and Partial Thromboplastin Times Prolonged
• Disorganized Growth Plate Cartilage
• Irregular, Flattened Acetabula with Medial Spikes
• Ovoid Ilia
• Broad Hypoplastic Ischia
• Large Corneae
• Normal Head Size
• Thin, Long Clavicles
• Hyperkeratotic Epithelium with Rete Ridges Extending into the Dermis
• Broad Gums
• Caused by Mutation in the Anthrax Toxin Receptor 2 Gene
• Hyaline Deposition in Dermis
• Recurring Subcutaneous Tumors
• No Phenotype in Heterozygotes
• Rudimentary or Absent Phalanges
• Short Metatarsals (especially First Metatarsal)
• Ball-Like Toes
• Short Metacarpals - Especially First Metacarpal
• Mild Hand Shortness
• Brachydactyly Complex
• Mutation in the WNT7A Gene
• Hypoplastic Flexion Creases on Dorsum of Hand
• Hypoplastic Metacarpals
• Hypoplastic or Aplastic Fibulae
• Short, Bowed Radii
• Hypoplastic or Aplastic Ulnae
• Excessive Wrinkled Skin
• Dermal Hydroxylysine Content Normal
• Lysl Hydroxylase Activity Normal
• Brittle Cornea
• Average Age at Death Is 37 Years
• Major Cause of Death is Heart Failure
• Estimated Carrier Frequency 1 : 100
• Most Common Inherited Ataxia
• Onset before Adolescence
• Mitochondrial Malic Enzyme Decreased
• Motor and Sensory Nerve Conduction Abnormal
• Gait and Limb Ataxia
• Majority Are Stillborn or Die in Early Neonatal Period
• Pulmonary Lobation Defect
• Mental Retardation in Survivors
• Two Types - Severe Infantile Form: Type 1 - Milder Form: Type 2
• Majority of Patients from Italy and Southwestern United States
• Mutations in the Alpha L Fucosidase Gene
• Urine Oligosaccharides Increased
• Widened Scalloped Acetabular Roof
• Absent or Hypoplastic Coccyx
• Small Fifth Lumbar Vertebrae
• Anterior Beaking of Thoracic and Lumbar Vertebrae
• Short Odontoid
• Absent or Hypoplastic Paranasal Sinuses
• Progressive Thickening of Diploic Spaces
• Spatulated Ribs
• Wide Clavicles
• Hypotonia Changing to Hypertonia
• UDP Galactose 4 Epimerase Deficiency in Circulating Blood Cells Only
• Caused by Mutations in the UDP-Galactose-4-Epimerase Gene
• Mutations in the UDP-Galactose-4-Epimerase Gene
• UDP-Galactose-4-Epimerase Deficiency in All Cells
• Cirrhosis if Untreated
• Liver Function Progressively Decreased
• Ovarian Failure due to Hypergonadotropic Hypogonadism
• Mental Retardation (if Untreated)
• Gamma Glutamylcysteine Deficiency
• Glutathione Deficiency
• Allelic to Mucopolysaccharidosis IVB
• Cherry Red Spot in Half the Patients
• Full Forehead
• Glomerular Epithelial Cytoplasmic Vacuolization
• Survival up to 10 Years
• Age at Onset: 7 Months to 3 Years
• Caused by Mutation in the Beta-1-Galactosidase Gene
• Sea-Blue Histiocyte - Bone Marrow
• Mild Flaring of Iliac Wings
• Developmental Arrest in 2nd Year of Life
• Onset of Disease at Age 3-30 Years
• Mutation in the GLB1 Gene
• Beta Galactosidase Activity Decreased
• Mild Anterior Beaking of Lumbar Vertebrae
• No Cherry Red Spot
• No Splenomegaly
• No Hepatomegaly
• No Seizures
• No Myoclonus
• Mild, Diffuse Cerebral Atrophy
• Normal Early Development
• Severe Hypotrichosis
• Widespread Interstitial Fibrosis
• Amorphous Hyaline Substance
• Thick, Full Lips
• Frequency in Ashkenazi Jews Increased
• Highly Variable Phenotype, Adults Possibly Asymptomatic
• Possibly Later Onset
• Age at Onset Most Often in Childhood - First Decade
• Restrictive Impairment
• Diffuse Pulmonary Infiltrates
• Bone Marrow Gaucher Cells
• Serum and Bone Acid Phosphatase Increased
• Risk for Monoclonal Gammopathy Increased
• Perimacular Grayness