Table 2.

Phenotypic details associated with known disease-causing genes identified by reanalysis

ID	Phenotype	Variants (hg19)	MIM no.	ACMG/AMP
1	Microcephaly, failure to thrive, dysmorphic features, severe periodic limb movements, GDD, gastroesophageal reflux	PPM1D chr17:58734200, NM_003620.3:c.1258dupA, p.(Lys420fs) (de novo)	617450	P
2	GDD, speech and motor apraxia, dysmorphic facial features, relative microcephaly, bifid uvula, submucosal cleft palate	FBXO11 chr2:48040455, NM_001190274.1:c.2145G > C, p.(Lys715Asn) (de novo)	618089	LP
3	Intellectual disability, GDD, hypotonia, abnormal movements	CAMK2B chr7:44283125, NM_001220.4:c.416C > T, p.(Pro139Leu) (de novo)	617799	LP
4	Skeletal dysplasia, GDD, hypotonia, facial dysmorphism and absent speech	PRKAR1A, chr17:66521965, NM_001276290.1: c.620A > G, p.(Tyr207Cys) (de novo)	101800	LP
5	Congenital hypotonia, GDD, short stature, lack of coordination, prominent fetal pads on fingers/toes	*CLTC chr17:57754422, NM_004859.3:c.2669C > T, p.(Pro890Leu)	617854	VUS
6	Metopic craniosynostosis, GDD, attention deficit hyperactivity disorder, hypotonia, mild dysmorphic features, pyloric stenosis	*MAP1B chr5:71494550, NM_005909.4:c.5368C > T, p.(Arg1790*)	157129	P

*Singleton

GDD global developmental delay, LP likely pathogenic, P pathogenic, VUS variant of unknown significance.