5q14.3 microdeletion syndrome

Definition

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

Disease data

Classification

Malformation syndrome

Synonyms

Del(5)(q14.3)

Monosomia 5q14.3

Monosomy 5q14.3

ORPHA code

228384

OMIM code

613443

ICD10 code

Q93.5

ICD11 code

*Soruce

No additional description.

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Description of the disease *