ORPHA:714413

9p23p22.2 microdeletion syndrome

Synonyms: Del(9)(p23)(p22.2) · Deletion 9p23p22.2 · Monosomy 9p23p22.2

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	9p23p22.2 microdeletion syndrome	Del(9)(p23)(p22.2) · Deletion 9p23p22.2 · Monosomy 9p23p22.2
fr	Syndrome de microdélétion 9p23p22.2	Del(9)(p23)(p22.2) · Délétion 9p23p22.2 · Monosomie 9p23p22.2
de	Mikrodeletionssyndrom 9p23p22.2	Del(9)(p23)(p22.2) · Deletion 9p23p22.2 · Monosomie 9p23p22.2
es	Síndrome de microdeleción 9p23p22.2	Del(9)(p23)(p22.2) · Deleción 9p23p22.2 · Monosomía 9p23p22.2
it	Sindrome da microdelezione 9p23p22.2	Del(9)(p23)(p22.2) · Delezione 9p23p22.2 · Monosomia 9p23p22.2
nl	9p23p22.2-microdeletiesyndroom	Del(9)(p23)(p22.2) · Deletie 9p23p22.2 · Monosomie 9p23p22.2
pt	9p23p22.2 microdeletion syndrome
pl	Zespół mikrodelecji 9p23p22.2	= en
cs	9p23p22.2 microdeletion syndrome	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:714404Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:261929Partial deletion of the short arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NFIB	Role in the phenotype of	Assessed	HGNC:7785	ENSG00000147862	600728	9p23-p22.3	nuclear factor I B	36756855[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.