ODCs

Click node...

Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Uveal coloboma - cleft lip and palate - intellectual deficit

1 OMIM reference -
1 associated gene
18 signs/symptoms

Intellectual deficit - sparse hair - brachydactyly

Uveal coloboma - cleft lip and palate - intellectual deficit

ARID1B	(UniProt - OMIM)		YAP1	(UniProt - OMIM)
SMARCA2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Intellectual deficit - sparse hair - brachydactyly		Uveal coloboma - cleft lip and palate - intellectual deficit
	Synonym(s): - Nicolaides-Baraitser syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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	- Intellectual deficit / mental / psychomotor retardation / learning disability

Intellectual deficit - sparse hair - brachydactyly		Uveal coloboma - cleft lip and palate - intellectual deficit
	Very frequent - Anteverted nares / nostrils - Everted lower lip - Flared / thick ala nasi - High vaulted / narrow palate - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Joint / articular deformation - Long philtrum - Macrostomia / big mouth - Microcephaly - 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 - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - 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 - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epiphyseal anomaly - Herniae		Very frequent - Autosomal dominant inheritance - Retinoschisis / retinal / chorioretinal coloboma - Sensorineural deafness / hearing loss 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