ODCs

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Monosomy 13q14

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

1 OMIM reference -
1 associated gene
17 signs/symptoms

Monosomy 13q14

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

RB1

(UniProt - OMIM)

RUNX2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RB1	(0.72)	RUNX2

Citations in the biomedical literature:

Monosomy 13q14		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Synonym(s): - Del(13)(q14) - Deletion 13q14 syndrome		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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	- Micrognathia / retrognathia / micrognathism / retrognathism - Short hand / brachydactyly - Short stature / dwarfism / nanism

Monosomy 13q14		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Very frequent - Broad nose / nasal bridge - Helix thickened / sculpted - High nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Total / partial trisomy / duplication Frequent - Abnormal dermatoglyphics - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cataract / lens opacification - Clinodactyly of fifth finger - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypotonia - Low set ears / posteriorly rotated ears - Prominent / bat ears - Ptosis - Retinoblastoma - 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 - Autosomal dominant inheritance - Beaked nose - Dental staining anomaly / spotted teeth / erythrodontia - Metaphyseal anomaly - Short philtrum - Thin / retracted lips Frequent - Abnormal vertebral size / shape - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Mutiple fractures / bone fragility