ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Premature chromosome condensation with microcephaly and intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BRCA2	(0.75)	MCPH1

Citations in the biomedical literature:

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations		Premature chromosome condensation with microcephaly and intellectual deficit

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

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

Premature chromosome condensation with microcephaly and intellectual deficit
	Very frequent - Autosomal recessive inheritance - Chromosomal or genetic anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism - Sloping forehead - Thin / retracted lips Frequent - Agenesis / hypoplasia / aplasia of kidneys - Corpus callosum / septum pellucidum total / partial agenesis - Cortical anomaly / thick bone cortical layer - Dilated cerebral ventricles without hydrocephaly - Hypereflexia - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
(no data available)