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1.

Stickler syndrome type 2

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

MedGen UID:
347615
Concept ID:
C1858084
Disease or Syndrome
2.

Abnormal vitreous humor morphology

Any structural anomaly of the vitreous body. [from HPO]

MedGen UID:
870895
Concept ID:
C4025356
Anatomical Abnormality

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