8p23.1 microdeletion syndrome

Orpha code: 251071OMIM code:

Definition

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

Disease data
Classification

Malformation syndrome

Synonyms
Del(8)(p23.1)
Del(8)(p23.1)
Monosomia 8p23.1
Monosomy 8p23.1
ORPHA code
251071
OMIM code
-
ICD10 code
Q93.5
ICD11 code
LD44.81

No additional description.

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