Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Table 3 Summary of physical and developmental anomalies in individuals with CDK13 pathogenic variants

	Cardiac manifestations				Development			Other organ			Growth
Sex, ID	Atrial septal defects	Ventricular septal defects	Additional cardiac structural disease	Any cardiac abnormality	Gross motor delay	Language delay	Developmental delay or ID	CNS abnormality	Renal structural abnormality	Scoliosis/spinal abnormality	Weight (<2 STD)	Short stature	Microcephaly
F, 1001	+	-	hypoplastic LPA	+	+	+	+	+	-	+	+	-	-
F, 1002	+	-	-	+	+	+	+	+	+	-	-	-	-
M, 1003	-	-	-	-	+	+	+	+	-	-	-	+	-
M, 1004	-	-	hypoplastic LPA, dilated PA	+	+	+	+	+	-	-	-	+	-
F, 1005	-	-	-	-	+	+	+	U	+	-	-	+	-
F, 1006	-	+	TOF	+	+	+	+	-	-	-	-	-	-
M, 1007	-	-	-	-	+	+	+	+	-	+	+	-	-
M, 1008	+	-	abnormal TV, EA	+	+	+	+	U	+	-	+	+	+
M, 1009	-	-	BAV, AS, LVNC	+	+	+	+	U	-	-	-	U	U
F, 265645^a	-	+	-	+	+	+	+	+	-	+	-	+	-
F, 265813^a	+	-	abnormal PV	+	+	+	+	U	-	-	-	U	-
F, 259460^a	+	-	-	+	+	+	+	U	-	+	-	-	-
M, 262889^a	-	+	abnormal PV	+	+	+	+	+	-	-	+	+	+
F, 271894^a	+	-	-	+	+	+	+	+	-	-	-	-	+
F, 258830^a	+	+	-	+	+	+	+	+	-	+	-	-	-
M, 270818^a	+	-	-	+	+	+	+	+	-	-	+	U	+
Participants (n)	8/16	4/16	7/16	13/16	16/16	16/16	16/16	10/11	3/16	5/16	5/16	6/13	4/15
Participants (%)	50	25	44	81	100	100	100	91	19	31	31	46	27

The medical history and previous imaging studies were reviewed for individuals with CDK13 pathogenic variants. Publication information was reviewed for an additional seven previously published individuals [1]
^aPreviously published with DECIPHER ID
All individuals had developmental delay or intellectual disability and the majority had cardiac involvement. Most individuals (91%) who had brain MRI completed had brain structural abnormalities
- manifestation not detected, + manifestation present, U unknown, ID intellectual disability, LPA left pulmonary artery, PA pulmonary artery, TOF tetralogy of Fallot, BAV bicuspid aortic valve, AS aortic stenosis, PV pulmonary valve, TV tricuspid valve, EA Ebstein’s anomaly, LVNC left ventricular non-compaction

ISSN: 1756-994X