ODCs

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6q25 microdeletion syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Uveal coloboma - cleft lip and palate - intellectual deficit

1 OMIM reference -
1 associated gene
18 signs/symptoms

6q25 microdeletion syndrome

Uveal coloboma - cleft lip and palate - intellectual deficit

ARID1B

(UniProt - OMIM)

YAP1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ARID1B	(0.49)	YAP1

Citations in the biomedical literature:

6q25 microdeletion syndrome		Uveal coloboma - cleft lip and palate - intellectual deficit
	Synonym(s): - Del(6)(q25) - Monosomy 6q25		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Sensorineural deafness / hearing loss

6q25 microdeletion syndrome		Uveal coloboma - cleft lip and palate - intellectual deficit
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Microcephaly Frequent - Anomalies of eyes and vision - Broad nasal root - Corpus callosum / septum pellucidum total / partial agenesis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypertelorism - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Plagiocephaly - Short stature / dwarfism / nanism - Structural anomalies of the nervous system Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Complete claw hand / camptodactyly of all fingers - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Pes talus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the genital system - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Autosomal dominant inheritance - Retinoschisis / retinal / chorioretinal coloboma Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cleft lip and palate - Coloboma of iris - Hematuria / microhematuria Occasional - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Embryotoxon - Glaucoma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ptosis - Retinal detachment - Strabismus / squint - Visual loss / blindness / amblyopia