ODCs

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1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Monosomy 13q14

Foveal hypoplasia - presenile cataract


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RB1	(0.75)	PAX6

Citations in the biomedical literature:

Monosomy 13q14		Foveal hypoplasia - presenile cataract
	Synonym(s): - Del(13)(q14) - Deletion 13q14 syndrome		Synonym(s): - O'Donnell-Pappas syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Cataract / lens opacification

Monosomy 13q14		Foveal hypoplasia - presenile cataract
	Very frequent - Broad nose / nasal bridge - Helix thickened / sculpted - High nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Short stature / dwarfism / nanism - Total / partial trisomy / duplication Frequent - Abnormal dermatoglyphics - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Clinodactyly of fifth finger - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypotonia - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Ptosis - Retinoblastoma - Short hand / brachydactyly - Short neck - Syndactyly of fingers / interdigital palm - Trigonocephaly Occasional - Anus / rectum anomalies - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Thumb hypoplasia / aplasia / absence - Webbed neck / pterygium colli		Very frequent - Anomalies of eyes and vision - Autosomal dominant inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint