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Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia

MedGen UID:
343282
Concept ID:
C1855164
Disease or Syndrome
Synonym: Roy Maroteaux Kremp syndrome
 
Monarch Initiative: MONDO:0009602
OMIM®: 250500

Clinical features

From HPO
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Increased bone mineral density
MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Abnormality of the skin
MedGen UID:
1845238
Concept ID:
C5848159
Anatomical Abnormality
An abnormality of the skin.

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