Table 3 Genotype profiles of five patients

Case 1

15q11.2q13.1del

-

-

De novo

Reported, PMID 34203304

Pathogenic

GALC

c.1963G > A

p.V655M

Father

Reported, PMID 31885218

Pathogenic

c.1511T > C

p.L504P

Mother

Reported, PMID 28598007

Pathogenic

Case 2

KMT2D

c.15292de1A

p.T5098Lfs*49

De novo

Novel

Pathogenic

SLC25A13

c.159_164inv

p.N54delinsD*

Father

Novel

Pathogenic

c.1427G > A

p.R476Q

Mother

Reported, ClinVar 2073364

Pathogenic

Case 3

16p11.2del

-

-

De novo

Reported, PMID 35595456

Pathogenic

MTHFR

c.591C > G

p.Y197*

Father

Novel

Pathogenic

c.584G > A

p.A195V

Mother

Reported, PMID 21132537

Pathogenic

Case 4

MMUT

c.323G > A

p.R108H

Father

Reported, PMID 11528502

Pathogenic

c.1540C > A

p.Q514K

Mother

Reported, PMID 26454439

Pathogenic

SMPD1

c.1144C > T

p.L382F

Father

Reported, PMID 23356216

Pathogenic

c.1675G > T

p.V559L

Mother

Reported, PMID 23356216

Pathogenic

Case 5

MMUT

c.866G > C

p.Y289T

Father

Reported, PMID 31622506

Pathogenic

c.2179C > T

p.R727X

Mother

Reported, PMID 34668645

Pathogenic

CYP21A2

c.188A > T

p.H63L

Father

Reported, PMID 18319307

Pathogenic

c.518T > A

p.I173N

Mother

Reported, PMID 3257825

Pathogenic