Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
Synonyms

ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2, FORMERLY

ASPGX2, FORMERLY

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED

AUTSX2

ID

http://purl.bioontology.org/ontology/OMIM/300495

altLabel

ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2, FORMERLY

ASPGX2, FORMERLY

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED

AUTSX2

cui

C1136249

C1845539

Gene Locus

Xp22.33

Gene Symbol

KIAA1260

NLGN4

AUTSX2

NLGN4X

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001981

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU076600

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU022121

http://purl.bioontology.org/ontology/OMIM/MTHU004240

http://purl.bioontology.org/ontology/OMIM/MTHU076601

http://purl.bioontology.org/ontology/OMIM/MTHU059987

http://purl.bioontology.org/ontology/OMIM/MTHU008253

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

300497

notation

300495

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2

Scope Statement

Susceptibility conferred by mutation in the neuroligin-4, X-linked, gene (NLGN4X, 300427.0001) [MOLECULAR BASIS]

tui

T047

T033

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