1q21.1 microdeletion syndrome

Orpha code: 250989OMIM code: 612474

Definition

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

Disease data
Classification

Malformation syndrome

Synonyms
Del(1)(q21)
Del(1)(q21)
Monosomia 1q21.1
Monosomy 1q21.1
ORPHA code
250989
OMIM code
612474
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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