36301 to 36400 most common queries

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

• Type IIIb Liver Involvement Only
• 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