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26601 to 26700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Possibly Infantile Onset
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