19p13.12 microdeletion syndrome

Orpha code: 254346OMIM code:

Definition

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Del(19)(p13.12)
Del(19)(p13.12)
Monosomia 19p13.12
Monosomy 19p13.12
ORPHA code
254346
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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