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32901 to 33000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Anti-dsDNA Antibody