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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Papilloma of choroid plexus

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.86)	TP53

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Papilloma of choroid plexus
	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): - Rare neurologic disease - Rare oncologic disease

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

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

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D020288

Papilloma of choroid plexus
	Very frequent - Autosomal recessive inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus
Distal 17p13.3 microdeletion syndrome
(no data available)