Mucopolysaccharidosis, type 10
- Synonyms
- ARSK DEFICIENCY; ARYLSULFATASE K DEFICIENCY; Mucopolysaccharidosis, type 10
Summary
Clinical features
Help- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Diastema
Diastema
- MedGen UID: 3800
- Concept ID: C0011998
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Open bite
Open bite
- MedGen UID: 78589
- Concept ID: C0266061
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Widely spaced teeth
Widely spaced teeth
- MedGen UID: 337093
- Concept ID: C1844813
- Finding: Finding
Abnormality of head or neck
- Coarse facial features
- Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Irregular acetabular roof
Irregular acetabular roof
- MedGen UID: 331872
- Concept ID: C1834975
- Finding: Finding
Abnormality of limbs
- Genu valgum
- Abnormality of the cardiovascular system
- Aortic regurgitation
Aortic regurgitation
- MedGen UID: 8153
- Concept ID: C0003504
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic valve stenosis
Aortic valve stenosis
- MedGen UID: 1621
- Concept ID: C0003507
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Thickened aortic valve cusp
Thickened aortic valve cusp
- MedGen UID: 1613159
- Concept ID: C4531033
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Aortic regurgitation
- Abnormality of the eye
- Vitreous floaters
Vitreous floaters
- MedGen UID: 5217
- Concept ID: C0016242
- Finding: Finding
Abnormality of the eye
- Vitreous floaters
- Abnormality of the genitourinary system
- Dermatan sulfate excretion in urine
Dermatan sulfate excretion in urine
- MedGen UID: 343207
- Concept ID: C1854774
- Finding: Finding
Abnormality of the genitourinary system
- Nephrolithiasis
Nephrolithiasis
- MedGen UID: 98227
- Concept ID: C0392525
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Dermatan sulfate excretion in urine
- Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
Beaking of vertebral bodies
- MedGen UID: 341588
- Concept ID: C1856599
- Finding: Finding
Abnormality of the musculoskeletal system
- Broad clavicles
Broad clavicles
- MedGen UID: 98091
- Concept ID: C0426801
- Finding: Finding
Abnormality of the musculoskeletal system
- Broad ribs
Broad ribs
- MedGen UID: 336390
- Concept ID: C1848654
- Finding: Finding
Abnormality of the musculoskeletal system
- Developmental dysplasia of the hip
Developmental dysplasia of the hip
- MedGen UID: 1640560
- Concept ID: C4551649
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Disproportionate short-trunk short stature
Disproportionate short-trunk short stature
- MedGen UID: 337580
- Concept ID: C1846435
- Finding: Finding
Abnormality of the musculoskeletal system
- Hyperlordosis
Hyperlordosis
- MedGen UID: 9805
- Concept ID: C0024003
- Finding: Finding
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Posterior scalloping of vertebral bodies
Posterior scalloping of vertebral bodies
- MedGen UID: 337993
- Concept ID: C1850196
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spatulate ribs
Spatulate ribs
- MedGen UID: 344777
- Concept ID: C1856637
- Finding: Finding
Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
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