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Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

MedGen UID:
318972
Concept ID:
C1833835
Disease or Syndrome
Synonym: Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
 
Monarch Initiative: MONDO:0008130
OMIM®: 165150
Orphanet: ORPHA2743

Definition

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. [from ORDO]

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Furrowed tongue
MedGen UID:
21583
Concept ID:
C0040412
Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
Progressive ophthalmoplegia
MedGen UID:
384479
Concept ID:
C2062713
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOphthalmoplegia-intellectual disability-lingua scrotalis syndrome
Follow this link to review classifications for Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome in Orphanet.

Recent clinical studies

Diagnosis

Lević ZM, Stefanović BS, Nikolić MZ, Pisteljić DT
Neurology 1975 Jan;25(1):68-71. doi: 10.1212/wnl.25.1.68. PMID: 1167409

Supplemental Content

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