. 2024 Feb 19;9:12. doi: 10.1038/s41525-024-00393-0

Table 3.

Patients with dual molecular diagnosis

ID^a	Consanguinty	Gene	Associated disease (OMIM ID)	Inheritance	Category
Patient 1	No	SRCAP	Floating-Harbor syndrome (136140)	AD	Overlapping
Patient 1	No	PTPN11	Noonan syndrome 1 (163950)	AD	Overlapping
Patient 2	Yes	PNPLA8	Mitochondrial myopathy with lactic acidosis (251950)	AR	Overlapping
Patient 2	Yes	SGCD	Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)	AR	Overlapping
Patient 3	Yes	SLC22A5	Carnitine deficiency, systemic primary (212140)	AR	Overlapping
Patient 3	Yes	DNMT3A	Tatton–Brown–Rahman syndrome (615879)	AD	Overlapping
Patient 4	Yes	MYO7A	Deafness, autosomal recessive 2 (600060)/ Usher syndrome, type 1B (276900)	AR	Distinct
Patient 4	Yes	BBS1	Bardet-Biedl syndrome 1 (209900)	AR	Distinct
Patient 5	Yes	SACS	Spastic ataxia, Charlevoix-Saguenay type (270550)	AR	Distinct
Patient 5	Yes	HPS6	Hermansky–Pudlak syndrome 6 (614075)	AR	Distinct
Patient 6	Yes	NALCN	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (615419)	AR	Distinct
Patient 6	Yes	GALT	Galactosemia (230400)	AR	Distinct
Patient 7	Yes	ITGA7	Muscular dystrophy, congenital, due to ITGA7 deficiency (613204)	AR	Overlapping
Patient 7	Yes	ATAD3A	Harel-Yoon syndrome (617183)	AR	Overlapping
Patient 8	Yes	FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (613153)	AR	Overlapping
Patient 8	Yes	GYG1	Polyglucosan body myopathy 2 (616199)	AR	Overlapping
Patient 9	Yes	HECW2	Neurodevelopmental disorder with hypotonia, seizures, and absent language (617268)	AD	Overlapping
Patient 9	Yes	ERCC8	Cockayne syndrome, type A (216400)	AR	Overlapping
Patient 10	No	CDKL5	Developmental and epileptic encephalopathy 2 (300672)	XLD	Overlapping
Patient 10	No	POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type) (203700)	AR	Overlapping
Patient 11	Yes	PTPN11	Noonan syndrome 1 (163950)	AD	Distinct
Patient 11	Yes	CAPN5	Vitreoretinopathy, neovascular inflammatory (193235)	AD	Distinct

^aAdditional information about these cases appears in Supplementary Table 3.