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5Q14.3 Microdeletion Syndrome (MONDO:0016456)

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

Overview

Category

Unknown

Ontology ID

Internal:16967

Synonyms

Del(5)(q14.3)

monosomy 5q14.3

5q14.3 deletion syndrome

autosomal dominant intellectual disability 20

chromosome 5q14.3 deletion syndrome

Mapped terms

GARD:0012166

MEDGEN:930198

Orphanet:228384

SCTID:719661007

UMLS:C4304529

Child terms

Unknown children.