PAX5-related B lymphopenia and autism spectrum disorder
PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.
MONDO:0002211
B cell deficiency
is_a
MONDO:0005258
autism spectrum disorder
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
hypogammaglobulinemia and autism spectrum disorder
exact