ORPHA:251056

6q25.2q25.3 microdeletion syndrome

Synonyms: Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	6q25.2q25.3 microdeletion syndrome	Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3
fr	Syndrome de microdélétion 6q25.2q25.3	Del(6)(q25.2q25.3) · Monosomie 6q25.2q25.3
de	Mikrodeletionssyndrom 6q25.2q25.3	Del(6)(q25.2q25.3) · Monosomie 6q25.2q25.3
es	Síndrome de microdeleción 6q25.2q25.3	Del(6)(q25.2q25.3) · Monosomía 6q25.2q25.3
it	Sindrome da microdelezione 6q25.2q25.3	Del(6)(q25.2q25.3) · Monosomia 6q25.2q25.3
nl	6q25.2q25.3-microdeletiesyndroom	Del(6)(q25.2q25.3) · Monosomie 6q25.2q25.3
pt	Síndrome de microdeleção 6q25.2q25.3	Del(6)(q25) · Monossomia 6q25
pl	Zespół mikrodelecji 6q25.2q25.3	Del(6)(q25) · Monosomia 6q25
cs	Syndrom mikrodelece 6q25	Del(6)(q25) · Monozomie 6q25
uk	Синдром мікроделеції 6q25.2q25.3	Del(6)(q25) · Моносомія 6q25
zh	染色体6q25微缺失综合征	6q25单体
tr	6q25 mikrodelesyon sendromu	Del (6) (q25) · Monozomi 6q25

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	612863	E		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.60	NTBT	index	validated
MONDO	0013025	E		validated
UMLS	C4304527	E		validated
GARD	3764	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 (1):

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
ARID1B	Role in the phenotype of	Not yet assessed	HGNC:18040	ENSG00000049618	614556	6q25.3	AT-rich interaction domain 1B	22405089[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_19034313[PMID]
Cases/families		4 cases	Worldwide	Case(s)	Validated	19034313[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

32 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001263	Global developmental delay
HP:0001256	Intellectual disability, mild
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
Frequent (79-30%)
HP:0012639	Abnormal nervous system morphology
HP:0000377	Abnormal pinna morphology
HP:0000478	Abnormality of the eye
HP:0000504	Abnormality of vision
HP:0001274	Agenesis of corpus callosum
HP:0000494	Downslanted palpebral fissures
HP:0000286	Epicanthus
HP:0001508	Failure to thrive
HP:0000218	High palate
HP:0000316	Hypertelorism
HP:0000272	Malar flattening
HP:0001357	Plagiocephaly
HP:0000358	Posteriorly rotated ears
HP:0004322	Short stature
HP:0000431	Wide nasal bridge
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0100490	Camptodactyly of finger
HP:0000175	Cleft palate
HP:0004209	Clinodactyly of the 5th finger
HP:0003241	External genital hypoplasia
HP:0001252	Hypotonia
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0001319	Neonatal hypotonia
HP:0001838	Rocker bottom foot
HP:0001250	Seizure
HP:0000582	Upslanted palpebral fissure
HP:0002119	Ventriculomegaly