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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Angelman syndrome

1 OMIM reference -
5 associated genes
21 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Angelman syndrome

YWHAE	(UniProt - OMIM)		ATP10A	(UniProt - OMIM)
			CYFIP1	(UniProt - OMIM)
			OCA2	(UniProt - OMIM)
			SNRPN	(UniProt - OMIM)
			UBE3A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	UBE3A

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Angelman syndrome
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): (no data available)

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: sporadic

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D017204

Angelman syndrome
	Very frequent - Anomalies of eyes and vision - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Face / facial anomalies - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcephaly - Prognathism / prognathia - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Depressed premaxillary region / midface - Hypereflexia - Macrostomia / big mouth Occasional - Inguinal / inguinoscrotal / crural hernia - Strabismus / squint
Distal 17p13.3 microdeletion syndrome
(no data available)