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Items: 2

1.

Stickler syndrome type 1

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:
810955
Concept ID:
C2020284
Disease or Syndrome
2.

Membranous vitreous appearance

Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. [from HPO]

MedGen UID:
1386132
Concept ID:
C4477006
Anatomical Abnormality

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