Sitemap | Symptoma 36301 to 36400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Liver and Muscle Involvement in Type 3A Normal Uric Acid Normal Blood Lactate Bow-Shaped Lips Broad Upturned Nasal Tip Allelic Disorder to Adult Polyglucosan Body Disease Nonprogressive Hepatic Form Is Less Frequent Extreme Clinical Heterogeneity Tissue Deposition of Amylopectin-Like Material Branching Enzyme Deficiency Liver Biopsy Shows Diffuse Interstitial Fibrosis Painful Cramping Following Ischemic Exercise Test Second Wind Phenomenon Symptoms Usually Appear in Adulthood Uric Acid Increased with Exercise Increased Ammonia With Exercise Hepatomegaly Improves with Age and Disappears around Puberty Presentation In Early Childhood No Hyperuricemia No Lactic Acidosis Variable Hyperlipidemia Liver Glycogen Content Increased Final Adult Height Normal Myoglobinuria with Extreme Exertion Hypertrichosis (Scalp, Arms, Legs, Back) Hypoplastic Nasal Bones Elevation of the Lessor Sphenoidal Wings Clival Hypoplasia Stocky Body Build X Linked Recessive Cytochrome B Negative CGD Deficiency or Absence of p22phox Protein Deficiency or Absence of P91-Phox Protein Deficiency or Absence of p47-phox Protein Deficiency or Absence of p67-phox Protein Type 2 Presence of Cytochrome B-245 All Cases Have Been Sporadic Hypotrichosis (Especially Scalp, Eyebrows, Eyelashes) Thin Light Hair Thin Gracile Metacarpals Absence of Mandibular Condyles Shallow Sella Turcica Ossification of Sutures Delayed Persistence of Neonatal Teeth Average Female Height: 152 cm Average Male Height: 155-157 cm Decreased Number of Sternal Ossification Centers Similar to Infantile Neuroaxonal Dystrophy (INAD) Classic, Atypical, and Intermediate Phenotypes Caused by Mutation in the Pantothenate Kinase 2 Gene Axonal 'Spheroid' Inclusions in the CNS Axonal Swelling or Thickening in the CNS Speech Abnormalities Corticospinal Signs Epiphyseal Hypoplasia Mild Metaphyseal Dysplasia Carp-Like Mouth Large Nose with Large Nasal Tip Large Cavum Vergae Mutation in the SLC6A19 Gene Light-Sensitive Dermatitis Amelogenesis Imperfecta of Secondary Teeth Normal Primary Teeth Transferrin Saturation Increased - > 60 % Hypertrichosis (Face Body) Long, Thin Upper Lip Hypertrophy of Alveolar Ridge Stomach Jejunal and Ileal Lymphangiectasis Mullerian Duct Remnants Bilateral Single Palmar Creases Cutaneous Syndactyly - Fingers 2 3 4 5 Conical Incisor Lymphedematous Facies Renal Lymphangiectasia Focal Parietal Pachygyria Pulmonary Artery Sling Medially Flared Eyebrows Broad Eyebrows Severely Impaired or Absent Speech Generally Considered to Be a Benign Disorder Caused by Mutation in the Histidine Ammonia Lyase Gene Urocanic Acid in Stratum Corneum Decreased Histidase Activity Decreased Blood, Urine and Skin Cell Urocanic Acid Decreased Histidase Activity Decreased or Absent Blood, Urine and Cerebrospinal Fluid Histidine Increased Speech Disorder Pyridoxine-Responsive Individuals Often with Milder Manifestations 50% of Patients Respond to Pyridoxine Methioninuria Biconcave Vertebrae Occasional Failure to Thrive in Infancy Normal to Tall Stature Age at Onset: Neonatal Period to Adulthood Clinical Severity Varies Plasma Methionine Low to Normal Brain Cytoarchitecture Disorganized 70% of Cases Are Stillborn Caused by Mutation in the HYLS1 Gene (HYLS1 610693-0001) Defective Lobation Hallux Duplication
