ODCs

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Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

6q25 microdeletion syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

Intellectual deficit - sparse hair - brachydactyly

6q25 microdeletion syndrome

ARID1B	(UniProt - OMIM)		ARID1B	(UniProt - OMIM)
SMARCA2	(UniProt - OMIM)


COMMON GENES	ARID1B


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCA2	(0.95)	ARID1B

Citations in the biomedical literature:

Intellectual deficit - sparse hair - brachydactyly		6q25 microdeletion syndrome
	Synonym(s): - Nicolaides-Baraitser syndrome		Synonym(s): - Del(6)(q25) - Monosomy 6q25

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): (no data available)		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	- Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism

Intellectual deficit - sparse hair - brachydactyly		6q25 microdeletion syndrome
	Very frequent - Anteverted nares / nostrils - Everted lower lip - Flared / thick ala nasi - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Joint / articular deformation - Macrostomia / big mouth - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / retracted lips - Triangular face Frequent - Abnormal implantation of hair - Abnormally placed nipples - Blepharophimosis / short palpebral fissures - Eczema - High arched eyebrows - Long / thick / curved lashes / trichomegaly / polytrichia - Metacarpal anomalies / Archibald's sign - Narrow nasal bridge - Rippled skin - Scoliosis - Terminal broadening / clubbing of toes - Terminal / third phalangeal bone of fingers broadened / deviated - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes Occasional - Advanced bone age - Delayed bone age - Epiphyseal anomaly - Herniae		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Sensorineural deafness / hearing loss Frequent - Anomalies of eyes and vision - Broad nasal root - Corpus callosum / septum pellucidum total / partial agenesis - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Plagiocephaly - 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 - Dilated cerebral ventricles without hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Micrognathia / retrognathia / micrognathism / retrognathism - Pes talus - Structural anomalies of the genital system - Upslanted palpebral fissures / mongoloid slanting palpebral fissures