Syndromic X-linked intellectual disability Abidi type(MRXSAB)

MedGen UID:: 337376
•Concept ID:: C1846056
•: Disease or Syndrome

Synonyms:	Abidi X-linked mental retardation syndrome; Mental retardation X-linked Abidi type; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE; MRXSAB; Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes
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:0010285
OMIM®:	300262
Orphanet:	ORPHA85273

Definition

X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. [from ORDO]

Clinical features

From HPO

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Abnormality of the nervous system
- Intellectual disability

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSyndromic X-linked intellectual disability Abidi type

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Syndromic X-linked intellectual disability Abidi type

Follow this link to review classifications for Syndromic X-linked intellectual disability Abidi type in Orphanet.

Recent clinical studies

Clinical prediction guides

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.

Sahajpal N, Ziats C, Chaubey A, DuPont BR, Abidi F, Schwartz CE, Stevenson RE
Clin Genet 2024 Feb;105(2):173-184. Epub 2023 Oct 29 doi: 10.1111/cge.14445. PMID: 37899624

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Syndromic X-linked intellectual disability Abidi type(MRXSAB)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity