RS375876694 BCS1L
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Associated Conditions
Intellectual disability
Microcephaly
Sparse hair
Movement disorder
Severe intellectual disability
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Intellectual disability
Microcephaly
Sparse hair
Movement disorder
Severe intellectual disability
Pili torti-deafness syndrome
GRACILE syndrome
Other Variants in BCS1L