ODCs

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6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
18 signs/symptoms

Split hand-split foot malformation

Uveal coloboma - cleft lip and palate - intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BTRC TP63	(0.82) (0.77)	YAP1 YAP1

Citations in the biomedical literature:

Split hand-split foot malformation		Uveal coloboma - cleft lip and palate - intellectual deficit
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - 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: 1-9 / 100 000 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: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Sensorineural deafness / hearing loss

Split hand-split foot malformation		Uveal coloboma - cleft lip and palate - intellectual deficit
	Very frequent - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Hand agenesis / absence - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance		Very frequent - Retinoschisis / retinal / chorioretinal coloboma Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cleft lip and palate - Coloboma of iris - Hematuria / microhematuria - Intellectual deficit / mental / psychomotor retardation / learning disability 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