. 2019 Feb 7;176(4):729–742.e18. doi: 10.1016/j.cell.2018.12.009

Table 1.

Phenotypes of SEMA3A-G, PLXNA1-4, and NRP1-2 Variant Carriers

Gene	Variant	Age (years)	BMI (kg/m²)	BMI SDS	Endocrine	Neuro developmental	Gut	Other
NRP1; PLXNA3^b	R237Q^a; T1679I	2.8	29.3	5.41
NRP2	V573L	34.1	50.0	-
NRP2	A506V	3.9	23.8	4.15		autism, speech delay
NRP2	A506V	11.3	24.1	2		severe migraine
PLXNA1	L1278F	6.3	28.7	4.53		behavioral problems
PLXNA1	G1650S	11.9	38.7	3.7
PLXNA1	R378H	21.0	34.8	2.89		hypotonia, autism, speech delay
PLXNA2	T515M	14.0	35.9	3.32
PLXNA2	N788I	6.3	26.0	3.65
PLXNA2	W25X	11.0	34.2	3.48
PLXNA2	R1668Q	33.2	63.4	–		Asperger’s syndrome, speech delay
PLXNA2	A436V	6.2	26.0	3.7
PLXNA3	V879M	53.7	49.0	–	hypothyroidism		severe constipation
PLXNA3	R1116C	3.5	23.3	3.71
PLXNA3	D1710N^a	13.9	29.4	2.72	hypogonadotropic hypogonadism
PLXNA3; PLXNA3^b	D127N; R351H	6.9	26.8	3.59
PLXNA4	V245G	15.3	58.6	4.63	hypothyroidism	nocturnal enuresis	severe constipation
PLXNA4	G643D	5.5	27.2	4.19				recurrent infections
PLXNA4	T1642I	11.1	32.8	3.32
PLXNA4	R70Q	9.5	26.6	3.03		behavioral problems
SEMA3A	K600M	2.3	29.5	5.5	hypothyroidism
SEMA3A	R350T	7.7	30.2	3.8	hypothyroidism
SEMA3B	F355L	10.0	28.4	3.16
SEMA3B	P296L	13.2	33.4	3.14		epilepsy, narcolepsy, conductive hearing loss, impaired pain sensation, behavioral problems, speech delay		recurrent infections
SEMA3C	R739Q	15.5	43.6	3.82	hypothyroidism	Asperger’s syndrome	severe constipation
SEMA3D	R773G	11.9	41.3	3.82		nocturnal enuresis
SEMA3D	R265H	13.0	35.8	3.4
SEMA3D	T397A	8.9	36.1	4.02
SEMA3D	Y199S	14.4	37.4	3.44
SEMA3D	N444S	34.1	41.1	–
SEMA3D	D380H	16.0	56.4	4.56	hypothyroidism
SEMA3D	D640Y	7.5	29.2	4.01		autism, learning difficulties, speech delay	severe constipation
SEMA3E	R167G	14.1	40.5	3.72
SEMA3E	K711N	7.1	23.1	2.75
SEMA3F	E88K	2.8	34.8	6.4			severe constipation
SEMA3G	R561W	3.7	21.3	2.98				recurrent infections
SEMA3G	R728C	13.9	36.1	3.36
SEMA3G	E478D	15.5	43.8	3.9
SEMA3G	A86S	14.9	34.6	3.11

All variants were in found in the heterozygous form unless indicated; gastrointestinal motility disorders presented as severe therapy-resistant constipation. Abbreviations: BMI, body mass index; BMI SDS, BMI standard deviation score for children.