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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
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 **1 - 10** of 19 in total

1

2

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HPO ID	HPO Term
HP:0000678	Dental crowding
HP:0003196	Short nose
HP:0000316	Hypertelorism
HP:0001382	Joint hypermobility
HP:0000194	Open mouth
HP:0001611	Hypernasal speech
HP:0000582	Upslanted palpebral fissure
HP:0010804	Tented upper lip vermilion
HP:0000752	Hyperactivity
HP:0000053	Macroorchidism