Table 1.

Summary of clinical data from 15 patients with mutations in CDK13

Patient	1*	2*	3	4	5	6*	7*	8*	9*	10*	11	12	13	14	15	16
DDD number	271894	262889	259007	261411	264961	258830	265645	265813	259460	270818	NA	331720	264613	270857	301509	271710
CDK13 mutation	p.Gly714Arg	p.Gly717Arg	p.Gly717Arg (mosaic)	p.Val719Gly	p.Lys734Arg	p.Arg751Gln	p.Asn842Ser	p.Asn842Ser	p.Asn842Ser	p.Asn842Ser	p.Asn842Ser	p.Asn842Asp	p.Arg860Gln	p.Val874Leu	p.Asp896Asn	c.2898–1G>A VoUS
Sex	F	M	F	F	F	F	F	F	F	M	F	F	F	F	F	F
Age at review	8.3	7.0	16.8	14.0	4.4	12.7	11.0	4	4.8	8.2	4.7	10.0	8.3	8.4	8.2	3.5
Gestational age at birth	38/40	38/40	38/40	34/40	36/40	35/40	40/40	38/40	41/40	39/40	37/40	37/40	38/40	40/40	40/40	36/40
Birth weight (centile)	19th	1st	15th	14th	42nd	3rd	70th	9th	42nd	2nd to 9th	75th	2nd to 9th	55th	50th	75th to 91st	62nd
Current height (centile)	9th to 25thth	0.4th	0.4th to 2nd	5th	1st	4th	1st at age 7 years	0.4th	5th	9th to 25th	3rd	<0.4th	<2nd	25th	34th	99th
Current weight (centile)	48th	0.4th	91st to 98th	67th	27th	59th	34th at age 7 years	9th	9th	0.4th to 2nd	0.4th to 2nd	<0.4th	2nd to 9th	50th	86th	96th
Current OFC (centile)	1st	<0.4th	9th to 25th	11th	1st	16th	9th to 25th	<0.4th	8th	<0.4th	30th	<0.4th	25th	25th to 50th	49th	ND
Developmental delay	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Intellectual disability	+	+	+	+	+	+	+	+	+	+	– (WNV-IQ 86)	+	+	+	+	+
Autism	+	ND	+	+	–	–	+	–	–	+	–	–	(autistic traits)	–	(stereotypies)	+
Seizures	–	–	–	–	–	–	+	+	(febrile convulsions)	+	–	–	–	+	–	–
Feeding difficulties	+	+	–	+	+	+	+	+	+	+	+	+	+	+	+	+
Facial dysmorphism	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Curly hair	+	–	–	+	+	–	+	–	+	–	–	+	–	+	–	–
Structural heart anomaly	+	+	–	–	–	+	+	+	+	+	+	+	–	–	–	–
Structural brain abnormality	+	+	–	–	ND	–	PVL	–	ND	+	ND	+	–	–	ND	ND
Digital anomalies	+	–	+	–	+	+	+	+	+	+	+	+	ND	+	+	+
Additional features	Microdontia, poor three-dimensional vision, overheats easily Glabellar haemangioma at 14 months	Nasal speech, sacral dimple, circumferential skin folds, recurrent mouth ulcers, required grommets	Obesity, circumferential skin folds, mild unilateral hearing loss	Sacral dimple, delayed osseous maturation, anal stenosis, recurrent gastrointestinal infections, sensorineural hearing impairment, lacrimal duct atresia, oligodontia	Pica. glabellar haemangioma, wide labial opening with partially deficient hymen, poor sleep, required grommets	Spinal hyperlordosis, truncal obesity	Spastic diplegia, scoliosis Panayiotopoulos syndrome	None	Pica. central sleep apnoea requiring oxygen	Poor sleep	Left congenital torticollis, glabellar haemangioma, sacral dimple, recurrent ear and upper respiratory tract infections	Metopic synostosis, congenital diaphragmatic hernia, choledochal cyst, recurrent respiratory infections	Low IgA and IgM	Glabellar haemangioma, painful dystonic spasms	Oligodontia with some small peg-shaped teeth, skin-picking behaviours	None

*Patients previously described by SIfrim et al.³

DDD, Deciphering Developmental Disorders; ND, no data; PVL, periventricular leukomalacia; VoUS, variant of uncertain significance; WNV-IQ, Wechsler non-verbal IQ.