Pathogenic variants in CSF1Rcause a multisystem disorder (bi-allelic mutations)
• Brain abnormalities
(a) leukodystrophy
(b) periventricular calcifications
(c) hypoplasia of the corpus callosum
(d) white matter abnormalities
(e) ventriculomegaly
(f) cerebellar hypoplasia
(g) mega cisterna magna
(h) focal seizures
• Skeletal dysplasia
(a) diffuse osteosclerosis of the craniofacial bones and skull
(b) widened metaphyses
(c) osteosclerosis of long bones
(d) platyspondyly
• Others
(a) hydrocephalus
(b) hypocalcemia
CSF1R BANDDOS