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X-linked intellectual disability due to GRIA3 anomalies

MedGen UID:
1675094
Concept ID:
C5191041
Disease or Syndrome
Synonyms: X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations; X-linked intellectual disability due to GRIA3 mutations
SNOMED CT: X-linked intellectual disability due to GRIA3 mutations (783702009); X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (783702009)
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.
 
Orphanet: ORPHA364028

Definition

A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked intellectual disability due to GRIA3 anomalies

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