ODCs

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1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
15 signs/symptoms

17p13.3 microduplication syndrome

Lethal ataxia with deafness and optic atrophy

PAFAH1B1	(UniProt - OMIM)		PRPS1	(UniProt - OMIM)
YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	PRPS1

Citations in the biomedical literature:

17p13.3 microduplication syndrome		Lethal ataxia with deafness and optic atrophy
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		Synonym(s): - Arts syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive

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


COMMON SIGNS	- Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability

17p13.3 microduplication syndrome		Lethal ataxia with deafness and optic atrophy
	Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - 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 - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration		Very frequent - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Death in infancy - Hemiplegia / diplegia / hemiparesia / limb palsy - Immunodeficiency / increased susceptibility to infections / recurrent infections - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia Frequent - Muscle weakness / flaccidity - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Pancreatic fibrosis