1p21.3 microdeletion syndrome

Orpha code: 293948OMIM code:

Definition

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

Disease data
Classification

Malformation syndrome

Synonyms
Del(1)(p21.3)
Del(1)p(21.3)
Monosomia 1p21.3
Monosomy 1p21.3
ORPHA code
293948
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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