alpha thalassemia-intellectual disability syndrome type 1
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), 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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005570
hematologic disorder
is_a
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related
related
ATR syndrome linked to chromosome 16
exact
ATR syndrome, deletion type
exact
ATR-16 Syndrome
exact
ATR-16 syndrome
exact
Alpha thalassemia-intellectual disability syndrome
exact
Alpha thalassemia-intellectual disability syndrome, deletion type
exact
Alpha thalassemia-mental retardation syndrome
exact
Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16
exact
Alpha-thalassemia/mental retardation syndrome, deletion-type
related
Haemoglobin H-related intellectual disability
related
Haemoglobin H-related mental retardation
related
Hemoglobin H-related mental retardation
related
alpha thalassemia-intellectual disability syndrome, deletion type
exact
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
exact
alpha-thalassemia/intellectual disability syndrome, deletion-type
exact
alpha-thalassemia/intellectual disability syndrome, type 1
exact
alpha-thalassemia/mental retardation syndrome, deletion-type
exact
intellectual disability with Haemoglobin H
related
mental retardation with Haemoglobin H
related
mental retardation with Hemoglobin H
related