U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

X-linked intellectual disability, Seemanova type

MedGen UID:
930757
•Concept ID:
C4305088
•
Disease or Syndrome
Synonym: X-linked intellectual disability Seemanova type
SNOMED CT: X-linked intellectual disability Seemanova type (718897009)
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.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019421
Orphanet: ORPHA85323

Definition

This syndrome has characteristics of microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked intellectual disability, Seemanova type

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...