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Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Disease Export to PDF
Name:
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Description:
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
ORPHAcode:
98791
Synonyms:
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
HBA2
HBA1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14