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Focal Paroxysmal Discharges Diffuse Paroxysmal Discharges Subclinical Absence Seizures Female Carriers Experience Significant Clinical Manifestations Mutation in the GLA Gene Plasma Globotriaosylsphingosine Increased Whorl-Like Corneal Dystrophy in Carrier Females Corneal and Lenticular Opacities Vacuolization of Glomerular and Tubular Epithelial Cells Renal Biopsy Shows Glomerular Sclerosis Episodic Pain and Paresthesia in the Extremities Episodic Acroparesthesias Mutation in the CHM Gene Irregular Pigmentation of Fundus Atrophy around the Optic Disc Night Blindness - Occurs First Constricted Visual Fields - Occurs Second Reduced Central Vision (Occurs Last) Asymmetric Brain Development Widening of the Operculum Tectal Enlargement Polymicrogyria - Predominantly Frontal and Perisylvian Dysplasia of the Cerebellar Hemispheres Intracranial Cysts Variable Age at Onset - 4 to 40 Years Mutation in the SLC33A1 Gene Caused by Mutation in the Contactin 1 Gene Mitochondria Decreased Disruption of Sarcomeres with Disorganization of the Z-Band Skeletal Muscle Biopsy Shows Minor Variation in Fiber Size Venous Angiectasia Prominent Superficial Venous Pattern Few Mature Neutrophils in the Bone Marrow Susceptibility to Pyogenic Infection Enamel Decreased Anterior Chamber Dysgenesis Anterior Eye Defects Contiguous Gene Deletion Syndrome at Chromosome 6p Males Are Most Severely Affected Carrier Females May Have Mild Features Choroid Coloboma Renal Malposition Slanted Palpebral Fissures Asymmetric, Dysplastic Ears Incomplete Penetrance in Carrier Females Female Carriers May Have Hearing Loss Mutation in the Phosphoribosylpyrophosphate Synthetase 1 Gene Increased Endoneurial Collagen Impaired Gait - Some Patients Are Never Able to Run Onset between 7 and 27 Years of Age Onset of Dystonia in Childhood Onset in Teens to Late Twenties Small, Sunken Eyes Death in Utero or as Neonate Caused by Mutation in the Intestinal Cell Kinase Gene Widened Proximal Metaphyses of the Femur and Tibia Shortened Upper Limbs Dilated Cystic Tubules Unfused Urogenital Folds Cortical Malformations Postnatal Onset Macrocephaly Some Patients Have Additional Neurologic Involvement Finger Contractures Wrist Contractures Rectus Medial Atrophy Hypoplasia of the Ocular Nerve Sensorimotor Axonal Peripheral Neuropathy Hypoplastic Internal Capsule Dysgenesis of the Anterior Commissure Dysgenesis or Agenesis of the Corpus Callosum No Alopecia Globular Cuneiform Cartilage Shortened Aryepiglottic Folds Tightly Coiled Epiglottis Disease Exacerbation during Summer due to Heat Blistering Tends to Improve with Age Heterozygotes Are Not Affected Cleavage within Basal Keratinocytes Blistering May Be Generalized or Localized Onset of Kyphosis in Childhood Onset of Cataracts in Late Adolescence Speech Never Acquired Maldentition Fatty Infiltration of the Pancreas Pancreatic Exocrine Deficiency Hyperpigmented Lesions - 0.2-0.5 cm Scaly Skin Rash over the Perineum Impaired Coagulation due to Malnutrition Poor Growth due to Malnutrition Thickened Parietal Bones Large Box-Shaped Skull Early Treatment Can Reduce Neurologic Symptoms Treatment with BH4 is Effective Defective Tetrahydrobiopterin Synthesis Mutation in the Sepiapterin Reductase Gene No Hyperphenylalaninemia Urine Pterins Normal Urine HVA, 5-HIAA and VMA Decreased Cerebrospinal Fluid Dihydrobiopterin Elevated Cerebrospinal Fluid Biopterin Elevated