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

Table 2 Summary of dysmorphic features in individuals with CDK13 pathogenic variants

	Facial dysmorphisms							Exam findings
Sex, ID	Hypertelorism	Epicanthal folds	Highly arched eyebrows	Wide nasal bridge	Short columella	Thin upper lip	Abnormal ear morphology	Clinodactyly or camptodactyly	Sacral abnormality	Hypotonia or spasticity	Strabismus
F, 1001	+	+	+	+	+	+	+	+	+	+	+
F, 1002	+	+	+	+	+	-	+	+	-	+	+
M, 1003	-	+	+	-	+	-	+	+	+	+	-
M, 1004	+	+	+	+	+	+	+	-	+	+	+
F, 1005	-	-	-	-	+	+	+	+	-	+	+
F, 1006	+	+	+	+	+	+	+	-	-	+	+
M, 1007	+	+	+	+	+	+	+	-	-	+	+
M, 1008	+	+	+	+	+	-	+	-	-	+	-
M, 1009	U	U	U	U	U	U	U	-	-	+	-
F, 265645^a	+	+	+	+	+	+	U	+	U	+	+
F, 265813^a	+	-	-	+	+	+	+	-	U	-	-
F, 259460^*	+	+	-	+	+	+	+	+	+	+	-
M, 262889^a	+	+	+	+	+	+	+	+	U	+	+
F, 271894^a	+	+	-	+	+	+	U	+	U	-	+
F, 258830^a	U	U	U	U	U	U	U	+	U	-	+
M, 270818^a	U	U	U	U	U	U	U	+	U	-	-
Participants (n)	11/13	11/13	9/13	11/13	13/13	10/13	11/11	10/16	4/10	12/16	10/16
Participants (%)	85	85	69	85	100	77	100	63	40	75	63

Eight of the nine individuals in this study underwent dysmorphology examination by a medical geneticist. Photographs and publication information were reviewed for an additional five previously published individuals [1]
^aPreviously published with DECIPHER ID: Dysmorphic features were variably present
- manifestation not detected, + manifestation present, U unknown

ISSN: 1756-994X