Table 1.

Phenotypes of Six Individuals with Confirmed or Possible Biallelic CSF1R Mutations

	CSF1R_01: II-1	CSF1R_02: II-4	Monies et al.33sib1	Monies et al.33sib2	Rees et al.34sib1	Rees et al.34sib2
CSF1R mutation (NM_005211.3)	c.1754−1G>C	c.1929C>A (p.His643Gln)	c.1620T>A (p.Tyr540∗)a	c.1620T>A (p.Tyr540∗)a	not sequenced	not sequenced
Symptom onset	prenatal	12 y	perinatal	perinatal	perinatal	perinatal
Age at last evaluation	10 m (death)	24 y (living)	perinatal (death)	perinatal (death)	9 m (death)	1 m (death)
Consanguinity	+	+	+	+	−	−
More than 1 affected family member	−	+	+	+	+	+
Ethnicity	Native American	Arab	Arab	Arab	unk	unk
Gender	M	M	unk	unk	F	M
Developmental delay (onset)	+ (3 m)	− (regression 12 y)	unk	unk	unk	unk
Macrocephaly	present (+5 SD)	absent	unk	unk	absent (10%)	“tower shaped”
Infantile hypotonia	+	unk	unk	unk	unk	unk
Spasticity	mild	+ (spastic quad.)	unk	unk	unk	unk
Hyperreflexia	−	+	unk	unk	unk	unk
Epilepsy (onset)	yes (8 m)	yes (12 y)	unk	unk	unk	unk
Agenesis of corpus callosum	+	+ (hypoplastic)	+	+	+	+
Ventriculomegaly	+	+	+	+	+	+
Periventricular Calcification	+	+	+	+	unk	unk
Cerebellar hypoplasia/atrophy	+	+	+	+	unk	unk
Heterotopia	+	−	unk	unk	unk	unk
Leukodystrophy	+	+	unk	unk	+	unk
Mega Cisterna Magna	+	+	+	+	unk	unk
Upwardly rotated cerebellar vermis	+	−	+	+	unk	unk
Axonal spheroids	+	unk	unk	unk	+	unk
Osteopetrosis	+	−	+	+	+	+
Hypocalcemia	+	−	+	+	+	unk

Spastic quad., spastic quadriplegia; CSP, cavum septum pellucidum; unk, unknown because not reported in publication

^aMutation not confirmed but likely based on “linkage by exclusion”