Table 4.

Summary of the molecular diagnoses provided by exome sequencing

Category		Number of diagnoses	%
* Autosomal dominant	De novo	36 (4)	34.0
	Inherited	5	4.7
	Inheritance unknown	8 (4)	7.5
* Autosomal recessive	Compound heterozygous	29	27.4
	Homozygous	6	5.7
	Phase unknown	9	8.5
* X-linked hemizygous	De novo	6 (2)	5.6
	Carrier mother	6 (1)	5.6
	Carrier mother (mosaic)	1	0.9
Total		106 (from 102 individuals)

^*Causal variants are point variants, small indels, or large CNVs. Number in parenthesis indicates cases with large CNV findings.