ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1

16 OMIM references -
4 associated genes
No signs/symptoms info

Bowen-Conradi syndrome

Early-onset autosomal dominant Alzheimer disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EMG1	(0.56)	APP

Citations in the biomedical literature:

Bowen-Conradi syndrome		Early-onset autosomal dominant Alzheimer disease
	Synonym(s): - Bowen syndrome, Hutterite type		Synonym(s): - EOFAD - Early-onset familial autosomal dominant Alzheimer disease - Familial Alzheimer disease

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537081		External references: 16 OMIM references - No MeSH references

Bowen-Conradi syndrome
	Very frequent - Autosomal recessive inheritance - Death in infancy - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Sloping forehead Frequent - Camptodactyly of fingers - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Intrauterine growth retardation - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft lip and palate - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Seizures / epilepsy / absences / spasms / status epilepticus
Early-onset autosomal dominant Alzheimer disease
(no data available)