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X-linked corneal dermoid(CND)

MedGen UID:
375481
Concept ID:
C1844671
Disease or Syndrome
Synonym: Dermoids of cornea
SNOMED CT: X-linked corneal dermoid (715426004); Guízar Vázquez Luengas Muñoz syndrome (715426004)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010579
OMIM®: 304730
Orphanet: ORPHA1661

Definition

An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial greyish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. [from SNOMEDCT_US]

Clinical features

From HPO
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked corneal dermoid
Follow this link to review classifications for X-linked corneal dermoid in Orphanet.

Supplemental Content

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