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36801 to 36900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Decreased Activity of Mitochondrial Respiratory Chain Complex I
Abnormal Mitochondria (Muscle Biopsy)
Psychomotor Regression
Possibly Lactic Acidosis upon Stress or Infection
Activity of Mitochondrial Complex II Decreased
Progressive Leukoencephalopathy
Extra Cuneiform Bone
Broad Cuboid First Metatarsal
Partial Duplication of Hallux
Zygomatic Arch Hypoplasia
Central Incisor Absent
Midline Cleft of Tongue
Normal Intelligence in Majority of Patients
Death Often Secondary to Pneumonia or Congestive Heart Failure
Thick, Relatively Tight Skin
Inclusion Bodies in Fibroblasts
Arylsulfatase A Increased
Mucopolysacchariduria Normal to Mildly Increased
Conical Bullet-Shaped Distal Ends of Phalanges
Broadening of Wrist
Tilted Distal Ends of Radius and Ulna
Cortical Bone Erosion (Especially Proximal Femur)
Irregular Contours of Pubis and Ischium
Supra Acetabular Constriction
Beaking of Vertebral Bodies T12-L3
Lower Thoracic Interpediculate Narrowness
Sella Turcica Normal or Enlarged
Osteopenia in Early Infancy
Moderate Joint Limitation
Clear to Faintly Hazy Corneas
Thick Firm Earlobes
High Narrow Forehead
Minimal Splenomegaly
Hurler-Like Body Configuration
Progressive Failure to Thrive
Birth Weight Less than Normal
Deceleration of Linear Growth during First Year
Birth Length Less than Normal
Broad Spatulate Appearing Ribs
Symptoms Noted at 2-3 Years
Aryl-Sulfatase A Increased - 10-20x
Iduronate Sulfatase Increased - 10-20x
Beta Hexosaminidase Increased - 10-20x
Small Irregular Carpal Bones
Shortened Long Tubular Bones
Broad Metaphyses
Vertebral Beaking
Absence of Dens
Mild Retinopathy
Wide, Slightly Short Ribs
Short Thick Clavicles
No Mucopolysacchariduria
Carrier Frequency in Ashkenazi Jewish Population: 1 in 100
Caused by Mutations in the Mucolipin-1 Gene
Urine Phospholipids Increased
Lysosomal Hydrolases Normal
Cytoplasmic Lamellar Concentric Inclusions
Fibrous Dysplasia of the Cornea
Cerebellar Atrophy in Older Patients
Cerebral Dysmyelination
Never Able to Walk
Slowly Progressive Neurologic Deterioration
Mutations in the SGSH Gene
Heparan N Sulfatase Deficiency in Fibroblasts and Amniocytes
Some Patients Have an Attenuated Phenotype
Death Occurs in Second or Third Decade
Mutations in the N-Acetyl-Alpha-D-Glucosaminidase Gene
N-Acetyl-Alpha-D-Glucosaminidase Deficiency in Fibroblasts
Progressive Neurodegeneration
Enzyme Replacement Therapy Has Not Been Effective
Severe Behavioral Problems at Age 3-4
Four Clinically Indistinguishable Biochemically Distinct Forms
Metachromasia of White Blood Cells and Fibroblasts
Excretion of Heparan Sulfate in Urine
Mild Dysotosis Multiplex
Clear Corneas
Usually Normal Stature
Severe Behavioral Problems with Onset at Age 3-4 Years
Common Sleep Disturbances
Slowing Mental Development by 1.5-3 Years of Age
Urinary Excretion of Chondroitin-6-Sulfate
Keratan Sulfate Excretion in Urine That Decreases with Age
Adult Height: 82-115 cm
Onset at Age 1-3 Years
Appear Normal at Birth
Beta-Galactosidase Deficiency in Fibroblasts and White Blood Cells
Pointed Proximal Second through Fifth Metacarpals
Mild to Severe Forms of Disease
Survival to 20 Years in Severe Form
Urinary Excretion of Dermatan Sulfate
Arylsulfatase B Deficiency in Fibroblasts and White Blood Cells
Broad, Irregular Metaphyses
Small Flared Iliac Wings
Anterior Wedging of L1 and L2
Large Omega-Shaped Sella
Mildly Coarse Facies
Growth Arrest at 2-4 Years of Age
Adult Height 110-140 cm
Wide Spectrum of Severity
Chondroitin 4-, 6-Sulfate Excretion in Urine