22201 to 22300 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Some Patients Are Clinically Unaffected
• Mutation in the 5 Oxoprolinase Gene
• Urinary 5-Oxo-L-Proline Elevated
• Calcium Oxalate or Carbonate Kidney Stones
• Circulating Phosphate Low
• Some Patients Survive Infancy
• Mutation in the Family with Sequence Similarity 20% Member C Gene
• Large Halluces
• Absence of Ossification of Sacrum
• No Ossification of Vertebral Bodies C3-C5
• Natal Teeth
• Abnormal Teeth
• Large, Protruding Tongue
• Mixed Hearing Loss
• 'Fishlike' Facies
• Craniofacial Dysplasia
• Plagiocephaly
• Multiple Fracture-Like Rib Lesions
• Stenotic Ostia of Ureters
• Bilateral Hydroureter
• Renal Cortex Calcification
• Double Renal Pelvis
• Tubular Resorption of Phosphate Decreased
• Self-Stimulating Behavior
• Mutation in the S Antigen Gene
• Some Patients May Lose Independent Ambulation
• Hyporeflexia of the Upper Limbs
• Caused by Mutation in the Myosin Va Gene
• Round-Shaped Iliac Bones
• Mutation in the Mitochondrial Methionyl tRNA Formyltransferase Gene
• Oral Hypotonia
• Neuropathic Process Seen on Muscle Biopsy
• Absent or Small Sphenoidal Sinus
• Abnormal Mucus
• Caused by Mutation in the Arylsulfatase B Gene
• Progressive Joint Stiffness
• Normal Gums
• Postsurgical Retinal Detachment
• Mutation in the Occludin Gene
• Early Onset Myoclonic Seizures
• Caused by Mutation in the Cytochrome B5A Gene
• Levels of Erythrocyte Cytochrome B5 Decreased
• Methemoglobin Concentration 12 to 19%
• Broad Nasal Root or Bridge
• Megalocornea (Diameter >12 mm)
• Delayed Myelination on Brain MRI
• Diffuse Cerebral Cortical Atrophy
• Primary Hypothyroidism
• White Matter Signal Abnormalities in Various Brain Regions
• Diffusion Abnormalities (MRI)
• Possibly Onset Later in Childhood
• 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
• Spinal Fluid Lactate Increased
• 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
• 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