GlyCosmos Portal

Submissions

non-syndromic X-linked intellectual disability 21

Summary

Synonym

MRX21
MRX34
X-linked mental retardation 21
X-linked mental retardation 21/34
X-linked mental retardation 34

Definition

A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.

Super Class

X-linked recessive disease non-syndromic X-linked intellectual disability

External Links

Disease Ontology

DOID:0112022

Mondo Disease Ontology

MONDO:0010256

OMIM

300143

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
11141	IL1RAPL1	interleukin 1 receptor accessory protein like 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
331461	Il1rapl1	interleukin 1 receptor accessory protein-like 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
317553	Il1rapl1	interleukin 1 receptor accessory protein-like 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
557801	il1rapl1b	interleukin 1 receptor accessory protein-like 1b	Alliance of Genome Resources
568868	il1rapl1a	interleukin 1 receptor accessory protein-like 1a	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **11 - 19** of 19 in total

« First

‹ Prev

1

2
HPO ID	HPO Term
HP:0001419	X-linked recessive inheritance
HP:0000486	Strabismus
HP:0009909	Uplifted earlobe
HP:0000717	Autism
HP:0100710	Impulsivity
HP:0000664	Synophrys
HP:0002342	Intellectual disability, moderate
HP:0000303	Mandibular prognathia
HP:0001250	Seizure