Proximal 16p11.2 microdeletion syndrome

Orpha code: 261197OMIM code: 611913

Definition

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

Disease data
Classification

Malformation syndrome

Synonyms
Proximal del(16)(p11.2)
Monosomia proksymalna 16p11.2
Proksymalna del(16)(p11.2)
Proximal monosomy 16p11.2
ORPHA code
261197
OMIM code
611913
ICD10 code
Q93.5
ICD11 code
LD44.G1

No additional description.

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