Sitemap | Symptoma 26601 to 26700 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Mostly Onset in Early Childhood after Normal Development Wide Phenotypic Variability and Severity Variable Neuropsychiatric Manifestations Mutation in the ECM1 Gene Hoarse Voice due to Laryngeal Infiltration Laryngeal Lesions Resulting in Hoarseness Deposition of Hyaline Material in the Skin Thickened Skin over the Elbows and Along the Fingers Yellow Papular Lesions of the Lip, Soft Palate, Pharynx Papules along the Eyebrows and Palpebral Fissures Acneform Lesions Absence of Fear Intracranial Calcifications in the Anterior Mesial Temporal Lobes Episodic Absence-Like Spells Episodic Decompensation High Mortality in Infancy and Early Childhood Some Patients May Have Normal Psychomotor Development Onset Usually in Neonates, Rarely Later Alpha-Ketoglutarate Elevated Branched Chain Amino Acids Elevated Pyruvate Elevated Recurrent Severe Vomiting Psychomotor Development Delayed Spinal Fluid Lactate Increased COX-Negative Fibers (Muscle Biopsy) Inability to Sit or Hold Head up Severe Axial Hypotonia Widening of the Ventricles Fibrosis Giant Cell Hepatocytes Mutation in the IVD Gene Mutation in the ACTB Gene Often Early Death due to Cardiac Failure or Infection Redundancy of Basal Lamina with Accumulated Debris Numerous Vacuole-Like Areas Patients Are Prone to Impaired Thermoregulation Patients Are Susceptible to Sepsis and Dehydration Abnormal Lamellar Granule Formation Large Diamond-Shaped Plaques Tonofibril Defect Necrotic Distal Toes Necrotic Fingertips Semiflexed Rigid Limbs Constricting Bands around Extremities at Birth Severe Ectropion Rudimentary Lipid Vacuoles in Corneocytes Broad Stratum Granulosum Cholesterol Clefts in Thickened Stratum Corneum Thickening of Cornified Cell Envelope during Keratinization Mild Lymphocytic Infiltrate in Upper Dermis Mild to Moderate Acanthosis Minimal to No Parakeratosis Hypohidrosis or Anhidrosis Bathing-Suit Distribution of Ichthyosis Fine White Scales Large, Dark, Plate-Like Scales Self-Healing Collodion Baby Digital Necrosis Eclabion Taut Facial Skin Mutation in the ALOX12B Gene Mild Diffuse Alopecia Cornified Cell Envelope Mild Hypergranulosis Marked Palmoplantar Hyperlinearity Larger and Darker Scales on Neck, Elbows and Knees Mild to Moderate Erythema Self-Healing Collodion Membrane Congenital Collodion Membrane Hypoplastic Fingers Eclabium Mutation in the ALPL Gene Normal Peripheral Red Blood Cell Survival Time Hypercellular Bone Marrow with Erythroid Hyperplasia Mild Anemia Increased Excretion of Urobilinogen Increased Iron Deposition Seen on Liver Biopsy Frequency: 1-17 in 1,000,000 Thromboembolism Is the Most Common Cause of Death Treatment with Betaine Especially for Pyridoxine Nonresponders Mutation in the CBS Gene Malar Flush Normal Pubertal Development and Fertility in Males Affected Females Are Infertile Onset of Deafness in Early Childhood No Ovaries Immature Genitalia Mutation in the GCLC Gene Proliferation of Spindle Cells Vertebral Fusion Abnormality of the Auricle 12th Rib Absent Heterozygotes May Exhibit Syndromic Manifestations Mutation in the TWIST2 Gene Rubbery Feel of the Nose and Chin Eyebrows Slanted Upward Puckered Skin about the Eyes Bilateral Temporal Marks Redundant Facial Soft Tissue
