ODCs

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Coffin-Siris syndrome

5 OMIM references -
5 associated genes
54 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 5

Uveal coloboma - cleft lip and palate - intellectual deficit

1 OMIM reference -
1 associated gene
18 signs/symptoms

Coffin-Siris syndrome

Uveal coloboma - cleft lip and palate - intellectual deficit

ARID1A	(UniProt - OMIM)	YAP1	(UniProt - OMIM)
ARID1B	(UniProt - OMIM)
SMARCA4	(UniProt - OMIM)
SMARCB1	(UniProt - OMIM)
SMARCE1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ARID1A ARID1B	(0.49) (0.49)	YAP1 YAP1

Citations in the biomedical literature:

Coffin-Siris syndrome		Uveal coloboma - cleft lip and palate - intellectual deficit
	Synonym(s): - CSS		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - 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): - 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: child / adolescent 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: 5 OMIM references - 1 MeSH reference: C536436		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cataract / lens opacification - Intellectual deficit / mental / psychomotor retardation / learning disability - Nystagmus - Ptosis - Strabismus / squint

Coffin-Siris syndrome		Uveal coloboma - cleft lip and palate - intellectual deficit
	Very frequent - Absent / small fingernails / anonychia of hands - Anomalies of teeth and dentition - Broad nose / nasal bridge - Coarse face - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hirsutism / hypertrichosis / Increased body hair - Hypotonia - Long / thick / curved lashes / trichomegaly / polytrichia - Microcephaly - Short stature / dwarfism / nanism - slow growth of the hair - Terminal / third phalangeal bone of fingers hypoplasia - Thick lips - Thick / bushy eyebrows Frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Dandy-Walker anomaly - Depressed nasal bridge - Elbow dislocation - Flattened nose - Hearing loss / hypoacusia / deafness - Hyperextensible joints / articular hyperlaxity - Intrauterine growth retardation - Macrostomia / big mouth - Patella absent / abnormal (excluding luxation) - Repeat respiratory infections - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absent / small toenails / anonychia of feet - Agenesis / hypoplasia / aplasia of kidneys - Anomalies of spine, vertebrae and pelvis - Clavicle absent / abnormal - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Cutis marmorata / marbled skin / livedo - Defect / anomaly of lacrimal system - Diaphragmatic hernia / defect / agenesis - Dilated cerebral ventricles without hydrocephaly - Ectopic / horseshoe / fused kidneys - Epicanthic folds - Herniae - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intervertebral disk anomaly - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Short philtrum - Simian crease / transverse / unique palmar crease - Spina bifida occulta		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 - Corneal clouding / opacity / vascularisation - Embryotoxon - Glaucoma - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinal detachment - Visual loss / blindness / amblyopia