Table 3.

Phenotypic summary of newly described and previously described cases (n = 12)^a

Clinical feature	Number	Percentage
Neuronal	12 of 12	100
MTS	6 of 12	50
DWM	4 of 12	33
Brain malformation	12 of 12	100
Microcephalyb	5 of 12	42
Encephalocele	2 of 12	17
Hypotonia	4 of 12	33
ID/DD	7 of 12	58
Oral	8 of 12	67
Abnormality or clefting of lips or palate	5 of 12	42
Abnormality of the tongue	6 of 12	50
Facial	9 of 12	75
Micrognathia	4 of 12	33
Ear anomalies	3 of 12	25
Digital	7 of 12	58
Retinal	7 of 12	58
Renal & hepatic	4 of 12	33
Skeletal	4 of 12	33
Other	10 of 12	83
Respiratory	6 of 12	50
Genital anomalies	5 of 12	42
Cardiac anomalies	3 of 12	25

^aFor Bachmann-Gagescu et al. [6] a detailed description of the patients was not available; therefore, those two cases were excluded from these analyses

^bMicrocephaly was previously described as a key feature for OFD14. While we have listed 5 of 12, the siblings in Family 2 were terminated in utero and it is not clear whether or not head circumference was measured at the time of autopsy.