RS377619533 ASXL3
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What This Variant Does
"CLNSIG=5
Associated Conditions
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Generalized hypotonia
Gastrostomy tube feeding in infancy
Decreased activity of mitochondrial complex I
Global developmental delay
Absent speech
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Inborn genetic diseases
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Generalized hypotonia
Gastrostomy tube feeding in infancy
Decreased activity of mitochondrial complex I
Global developmental delay
Absent speech
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Other Variants in ASXL3