32901 to 33000 most common queries

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

• Submucosal Macrophages Filled with Sphingolipids
• Arylsulfatase A Activity Normal or Mildly Decreased
• Progressive Developmental Delay
• Allelic to Metaphyseal Dysplasia without Hypotrichosis
• Allelic to Cartilage- Hair Hypoplasia
• Adult Onset of Symptoms Has Been Reported
• Activity of 3-Methylglutaconyl-CoA-Hydratase Decreased
• Urinary Hydroxyisovaleric Acid Increased
• Urinary Incontinence (Adult)
• Progressive Basal Ganglia Atrophy
• Variable Features
• Slender Digits
• Floppy Ears
• Small Midface
• Microcystic Dysplasia
• Central Canal Malformation
• Deficient Myelination
• Abnormal Sulci
• Presence of Hand Anomalies Determines Classification
• Bifid Distal Phalanx of Great Toe
• Accessory Ossification Proximal Phalanx - 2nd Digit
• Triangular Phalanges of the Hand
• Phalangeal Dislocation
• Dislocated Radioulnar Joints
• Greater Trochanter Elevated
• Average Adult Height 114 cm
• Caused by Mutation in the C20ORF7 Gene
• Mutation in the NDUFA11 Gene
• Allelic to Mucolipidosis Type 2
• Complementation Group C
• Complementation Group B
• Complementation Groups - Complementation Group A
• Iduronate Sulfatase in Fibroblasts Decreased
• Fibroblast Alpha Mannosidase Decreased
• Beta-Hexosaminidase in Fibroblasts Decreased
• Fibroblast Arylsulfatase A Decreased
• Iduronate Sulfatase Increased
• Alpha-Mannosidase Increased
• Beta Hexosaminidase Increased
• Fine Corneal Opacities
• Mutation in the Beta Galactosidase Gene
• Mutation in the TRIM37 Gene
• Globular Shaped Heart On X-Ray
• Generalized Thinning of Tubular Bones
• Thin, Fishbone-Like Ribs
• Mutation in the CAPN3 Gene
• Motor Clumsiness
• Transient Eosinophilia in First Decade
• Possibly Late Onset of Mild Symptoms in Heterozygous Carriers
• Many Patients Lose Independent Mobility after 25 Years
• Age at Onset 15 to 25 Years
• Mutation in the Dysferlin Gene
• Increased Connective Tissue and Fat in Muscles
• Upper Limb Involvement Occurs Later or Not at All
• Primarily Affects Lower Limbs
• Intermittent Exacerbations
• Onset in First Decade < 5 Years
• Endplate Potential and Amplitudes Decreased
• Decrements in Some Muscles (EMG)
• Decreased Postsynaptic Length
• Degenerating Nerve Terminals
• Denuded Postsynaptic Regions
• Muscle Weakness Congenital
• Caused by Mutation in the C8ORF38 Gene
• Mutation in the NDUFA2 Gene
• Allelic to Senior Loken Syndrome Type 1 and Joubert Syndrome Type 4
• Mutation in the NEU1 Gene
• Slurred Speech (Type I)
• Cardiomegaly Type 2 - Infantile
• Bone Marrow Foam Cells - Type 2
• Vacuolated Lymphocytes (Type II)
• Neuraminidase Deficiency
• Urine Sialylglycopeptides Increased
• Urinary Excretion of Sialylated Oligosaccharides
• Congenital Proteinuria Type 2
• Congenital Epiphyseal Stippling (Type 2)
• Muscle Atrophy Type 1
• Lens Opacities (Infantile and Juvenile Type 2)
• Cherry Red Spot ( Type 1, Type 2 Infantile and Juvenile Foms)
• Nystagmus Type 1
• Congenital Facial Edema Type 2
• Coarse Facies - Type 2, All Types
• Splenomegaly (All Subtypes of Type 2)
• Congenital Neonatal Ascites Type 2
• Short Stature (Infantile and Juvenile Type 2)
• Dysmetria Type 1
• Myoclonus Type 1 and Type 2 - Infantile and Juvenile
• Seizures - Type 1 and Type 2 - Juvenile
• Ataxia - Type 1 and Type 2 - Infantile and Juvenile
• Caused by Mutation in the Prosaposin Gene (PSAP)
• Saposin A Deficiency
• Activity of Galactocerebrosidase Decreased
• Diffuse White Matter Dysmyelination
• Loss of Spontaneous Movements
• Neurologic Regression around Age 3 Months
• Slowed Dysrhythmia and Multifocal Discharges
• Limited Expressive Language
• Neurologic Regression Following Seizure Onset
• Initially Normal Development
• NKT Cells Decreased