Warning: The NCBI web site requires JavaScript to function. more...

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

X-linked intellectual disability, Porteous type

MedGen UID:: 1842708
•Concept ID:: C5681616
•: Disease or Syndrome

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:0019766
Orphanet:	ORPHA93945

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked intellectual disability, Porteous type

Pathological process
- Disease
  - Pediatric Disorder
    - Developmental disorder
      - Mental Retardation
        Renpenning syndrome
        X-linked intellectual disability, Porteous type

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity

Clear Turn Off Turn On

X-linked intellectual disability, Porteous type
X-linked intellectual disability, Porteous type

MedGen
Neoplasm of the pituitary gland
Neoplasm of the pituitary gland

MedGen
Congenital Defects of Phagocyte Number, Function, or Both
Congenital Defects of Phagocyte Number, Function, or Both

MedGen
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase

MedGen
Nasal polyposis
Nasal polyposis

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...