16p11.2p12.2 microdeletion syndrome

Orpha code: 261211OMIM code: 613604

Definition

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Del(16)(p11.2p12.2)
Del(16)(p11.2p12.2)
Monosomia 16p11.2p12.2
Monosomia 16p11.2-p12.2
Zespół mikrodelecji 16p11.2-p12.2
Monosomy 16p11.2p12.2
ORPHA code
261211
OMIM code
613604
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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