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1.

Mandibuloacral dysplasia progeroid syndrome

Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020). [from OMIM]

MedGen UID:
1741713
Concept ID:
C5436867
Disease or Syndrome
2.

Intra-oral hyperpigmentation

Increased pigmentation, either focal or generalized, of the mucosa of the mouth. [from HPO]

MedGen UID:
585590
Concept ID:
C0399483
Finding

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