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