36501 to 36600 most common queries

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

• Nasal Congestion
• Volume of Cerebral Cortex Decreased
• Recurrent Respiratory Tract Infections
• Affected Arteries Show Loss of Smooth Muscle Cells
• Occurs in about 1 in 10,000 Births
• Posterior White Matter Volume Reduced
• Fibrosis of Left Ventricle
• Mutation in the Chromosome 12 Open Reading Frame 65 Gene
• Abnormal Gyri
• Normal Intellectual Function
• One Palestinian Family Reported (as of April 2014)
• Renal Aplasia
• Mutation in the NDUFS1 Gene
• Mutation in the FASL Gene
• Loss of Independent Ambulation by Age 10 Years
• Adenoid Disorder
• Short Stature, Commonly below 3rd Percentile for Height
• Less Severe Loss of Unmyelinated Fibers
• Hypopigmented Skin Patches on Arms (Vitiligo)
• Long Perforating Arteries of the Brain Are Affected
• Mutation in the QDPR Gene
• Biventricularly Decreased Contractility
• Mutation in the STAG3 Gene
• Mutation in the NDUFV3 Gene
• Age at Onset: First to Sixth Decade
• Arthrogryposis of the Small Joints
• Marked Loss of Myelinated Fibers (Sural Nerve Biopsy)
• About Half of Patients Report Vestibular Symptoms
• Allelic Disorder to Spastic Paraplegia Type 3
• Mutation in the Fas Antigen Gene
• Small Pits Anterior to the Helix
• Mental Retardation by the Age of 7 Years
• Onset by Age 2 Years
• Urine and Cerebrospinal Fluid Biopterin Increased
• Hyperpigmented Skin Patch
• Vasculopathy of the Small Arteries Penetrating the White Matter
• Mutation in the Mitochondrial tRNA Lysine Gene
• Possible Increased Risk of Germ-Cell Tumors
• Endometrial Biopsy Abnormal
• Caused by Mutations in the Matrilin 3 Gene (MATN3 602109-0005)
• Increased Risk of Malignant Lymphoma
• Mutation in the FUS Gene
• Brittle Nails
• Both Recessive and Dominant Inheritance Reported
• Distal Muscle Weakness Predominantly Affecting the Lower Limbs
• Mutation in the Atlastin 1 Gene
• Normal IQ in Infancy, Later Mental Retardation
• Five Unrelated Patients Reported (as of December 2009)
• Mutation in the TK2 Gene
• Diurnal Fluctuation of Neurologic Symptoms
• IgG Normal to Increased
• Microbleeds Occur after Age 40 Years
• Mutation in the NADH Dehydrogenase Subunit 5 Gene
• Some Familial Occurrence most De Novo Aberrations
• Irregular, Small Epiphyses
• Estrogen Increased
• Focal Keratoderma of Soles
• Two Brothers Have Been Reported - Last Curated August 2012
• Mutation in the SLC7A9 Gene
• Distal Muscle Atrophy Predominantly Affecting the Lower Limbs
• Ovarian Cancer
• Mild Pes Cavus
• Contiguous Gene Duplication Syndrome
• Skeletal Muscle Tissue Shows 14 to 45% Depletion of Mitochondrial DNA
• Hepatic Failure in First Months of Life
• Specific Antibodies Decreased
• Lesions in the Internal Capsule after Age 40 Years
• Progressive Neurologic Deterioration if Untreated
• Mutation in the ATP Synthase 6 Gene
• Striated Keratoderma of Palms
• Wide Metaphyses with Lateral Spurs
• Mutation in the Solute Carrier Family 3 Member 1 Gene
• Anomalous Pulmonary Drainage
• Average Age at Onset is 24 Years
• Restrictive Physiology
• Neonate-Onset
• Duplication of 0.25 to 1.08 Mb on Chromosome 5p13
• Large Optic Discs
• T Cell Response to Mitogens Decreased
• Thyroglobulin Increased
• Genetic Heterogeneity (see PFM1)
• Reflexes May be Decreased, Normal or Increased
• Variable Severity: from Central Severe to Peripheral to Transient
• Lacunar Infarcts Develop after Age 40 Years
• Death at Birth or Within First 2 Years of Life
• Variable Tooth Agenesis
• Underossified Ischia
• Urinary Excretion of Lysine, Arginine, and Ornithine Increase
• Complex Congenital Heart Malformation
• Mutation in the ANO3 Gene
• Low Incidence of Plexiform Neurofibromas
• Coagulopathy due to Hepatic Failure
• Overweight as Adult
• Bilateral Ureteral Aplasia
• Age-Dependent Penetrance
• Combined Humoral and Cellular Immunodeficiency
• Spasticity in Infancy
• Mutation in the 6-Pyruvoyl-Tetrahydropterin Synthase PTS Gene
• Many Adults with Typical Form Remain Ambulatory
• Subcortical Lacunar Lesions Seen Early in Disease