Table 3 Low population frequency variants detected in the Trio-WES without genotype phenotype correlation

NHS (NM_198270.3)

c.926C > G

(exon 4)

ChrX

g.17739634C > G

p.(Pro309Arg)

missense

VOUS

Hemizygosis

Syndrome Nance-Horan (XLD)

DCHS1

(NM_003737.3)

c.887G > A

(exon 2)

Chr22

g.6661958C > T

p.(Arg296Gln)

missense

VOUS

Heterozygous (Inherited from father)

Syndrome de Van Maldergem 1 (AR)

FKRP

(NM_001039885.2)

c.928G > C

(exon 4)

Chr19

g.47259635G > C

p.(Glu310Gln)

missense

VOUS

Heterozygous (Inherited from the mother)

Autosomal recessive limb-girdle muscular dystrophy type 2I (AR), Congenital muscular dystrophy type 1C (AR), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (AR)

GRIN1

(NM_007327.3)

c.467G > A

(exon 3)

Chr9

g.140040251G > A

p.(Arg156His)

missense

VOUS

Heterozygous (Inherited from the mother)

Neurodevelopmental disorder with or without hyperkinetic movements and seizures (AR)

KIF1A

(NM_004321.7)

c.4798C > T

(exon 45)

Chr2

g.241658536G > A

p.(Arg1600Trp)

missense

VOUS

Heterozygous (Inherited from the mother)

Hereditary sensory autonomic neuropathy type 2 (AR), Autosomal spastic paraplegia type 30 (AD; AR)