ORPHA:664404

6q25.1 microdeletion syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	6q25.1 microdeletion syndrome
fr	Syndrome de microdélétion 6q25.1
de	Mikrodeletionssyndrom 6q25.1
es	Síndrome de microdeleción 6q25.1
it	Sindrome da microdelezione 6q25.1
nl	6q25.1-microdeletiesyndroom
pt	Síndrome de microdeleção 6q25.1
pl	Zespół mikrodelecji 6q25.1
cs	Syndrom mikrodelece 6q25.1
uk	Синдром мікроделеції 6q25.1

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	614980	NTBT	validated
MONDO	0971095	E	validated
UMLS	C5925074	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:228410Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases; rare neurological diseases
ORPHA:262047Partial deletion of the long arm of chromosome 6 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TAB2	Role in the phenotype of	Assessed	HGNC:17075	ENSG00000055208	605101	6q25.1	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	20493459[PMID]

0 records

No prevalence record in this release.

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