ODCs

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1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
2 associated genes
19 signs/symptoms

17p13.3 microduplication syndrome

Acrocallosal syndrome

PAFAH1B1	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
YWHAE	(UniProt - OMIM)		KIF7	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	GLI3

Citations in the biomedical literature:

17p13.3 microduplication syndrome		Acrocallosal syndrome
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		Synonym(s): - ACS

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: (no data available)

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


COMMON SIGNS	- Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Tall stature / gigantism / growth acceleration

17p13.3 microduplication syndrome		Acrocallosal syndrome
	Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypotonia - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - Clinodactyly of fifth finger - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Micropenis / small penis / agenesis		Very frequent - Autosomal recessive inheritance - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Diaphragmatic hernia / defect / agenesis - Hypospadias / epispadias / bent penis - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Undescended / ectopic testes / cryptorchidia / unfixed testes