Sitemap | Symptoma 36101 to 36200 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Reabsorption of Capital Femoral Epiphyses Reduced Pancreatic Beta Cells Insulin-Dependent Diabetes Mellitus (Onset in Infancy) Hypoplastic Nail Syndactyly (Fingers 3 4) Thumb Clinodactyly Stiff Prominent Pinnae Hypopigmented Ocular Fundus Hypopigmented Scalp Hair Coarse Dry Scalp Hair Bulbous Toes Small Broad Hands Pouting Lower Lip Short Stubby Nose Long Deep Philtrum Sloping Shoulders Prothrombin Time Prolonged - Partial Thromboplastin Time Prolonged Disorganized Growth Plate Cartilage Irregular, Flattened Acetabula with Medial Spikes Ovoid Ilia Broad Hypoplastic Ischia Large Corneae Round Flat Face Normal Head Size Thin, Long Clavicles Hyperkeratotic Epithelium with Rete Ridges Extending into the Dermis Broad Gums Cupid-Bow Mouth 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 Areflexia of Lower Limbs Motor and Sensory Nerve Conduction Abnormal Gait and Limb Ataxia Majority Are Stillborn or Die in Early Neonatal Period Pulmonary Lobation Defect Short Broad Neck Cloudy Cornea 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 Thin Dry Skin 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 Gamma Glutamylcysteine Deficiency Glutathione Deficiency Late-Onset Spinocerebellar Degeneration 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 Flat Femoral Heads
