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Free T3 : Free T4 Decreased Hypoplastic Thyroid Gland Mutation in the Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase Gene Partial Cleft Lip Partially Congenital Absence of Skin Mucosal Lesions Severe Atrophic Scarring Anemia due to Poor Nutrition Digital Fusion Lingual Adhesions Oral Blisters Anal Blisters Esophageal Blisters Poor Growth due to Poor Nutrition See Also the Non-Herlitz Type of JEB - a Less Severe Disorder Rare Survival to Teens Often Lethal in Infancy Lesions Apparent at Birth Caused by Mutation in the Laminin Gamma-2 Gene Caused by Mutation in the Laminin Beta-3 Gene Hemidesmosomal Abnormalities Absence of Immunostaining to Laminin 5 Subunits Skin Cleavage in the Lamina Lucida Perinasal or Perioral Nonhealing Crusting of the Skin Severe Bullous Blistering Lesions Syndactyly Does Not Occur See Also EB Simplex with Pyloric Atresia Caused by Mutation in the Integrin Alpha 6 Gene Mutation in the ITGB4 Gene Cleavage within the Lamina Lucida Stenosis at the Ureterovesical Junctions Urethrovesical Occlusion Intrathoracic Stomach Heterozygotes Usually Asymptomatic Prolonged Bleeding Bleeding Episodes (Epistaxis, Menorrhagia, Ecchymosis) Sorbitol and Glycerol Intolerance Episodes Triggered by Fasting Illness Fever Onset in Newborns or Infants Mutation in the FBP1 Gene FBP1 Enzyme Activity Decreased Increased Urinary Glycerol Distinct Disorder from Galactosemia Caused by Mutation in the Galactokinase 1 Gene Galactokinase Activity Decreased Patients with Later Onset Have Better Prognosis Caused by Mutation in the Alpha-1,4-Glucosidase Gene Abnormal Brain Myelination Mutation in the RAG1 Gene Residual RAG1 and RAG2 Activity Defective T Cell Function Number of T Cells Decreased Number of B Cells Decreased Lack of Thymus on Ultrasound Granulomas on Skin or Tongue, in Lungs or other Tissues Non-Infectious Granulomas See Also Facial Hemihypertrophy May Be due to Imprinting Defect Hemihyperplasia of Hands Hemihyperplasia of Limbs Increased Risk of Wilms Tumor Increased Risk for Embryonal Tumors Isolated Asymmetric Growth Involving 1 or More Body Parts Displaced Nipple Due to Chest Asymmetry Mutation in the AKR1D1 Gene Liver Failure before Adulthood Giant Cell Transformation on Biopsy Can be Effectively Treated with N-Carbamylglutamate Variable Phenotype Depending on Residual Enzyme Activity Urine Orotic Acid Normal Glutamine Increased Neurobehavioral Changes Associated with Hyperammonemia Prevalence in the French-Canadian Population Increased Onset in First Months or Years of Life Coagulopathy due to Liver Dysfunction Homocitrullinuria Subcortical White Matter Abnormalities Buccolingofacial Dyspraxia Episodic Confusion Caused by Mutation in the Proline Dehydrogenase Gene Susceptibility to Schizophrenia Increased Variable Frequency and Severity Episodic Intrahepatic Cholestasis Severe Eczema Impaired T Cell Immunity Recurrent Staphylococcus Aureus Infections Long Columella Coloboma - Iris and Retina Heterotopic Kidney Contiguous Gene Syndrome due to Deletion of the LIS1 Gene Caused by Mutation in the Claudin 19 Gene Incomplete Distal Renal Tubular Acidosis Hypercalciuria and/or Nephrolithiasis in Heterozygotes Caused by Mutation in the Claudin 16 Gene (CLDN16 603959-0001) Abacterial Leukocyturia Mutation in the MANBA Gene Disease Course Depends on Age at Onset Variable Age at Onset - Infant to Adult Mutation in the PSAP Gene Submucosal Macrophages Filled with Sphingolipids