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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