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1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1

Beckwith-Wiedemann syndrome due to CDKN1C mutation

1 associated gene
No signs/symptoms info

Monosomy 13q14

Beckwith-Wiedemann syndrome due to CDKN1C mutation

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RB1	(0.56)	CDKN1C

Citations in the biomedical literature:

Monosomy 13q14		Beckwith-Wiedemann syndrome due to CDKN1C mutation
	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 cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare renal 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: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Monosomy 13q14
	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 - Cataract / lens opacification - 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
Beckwith-Wiedemann syndrome due to CDKN1C mutation
(no data available)