Table 1.

Clinical and Genetic Findings in KIF11-Mutation-Positive Patients

Pedigree	Individual	Gender	Head Circumferenceb	Lymphedema	Eye Abnormalities	Additional Clinical Features	Nucleotide Variant	Exon	Protein Alteration
MLCRD01	I-1	male	−3.0	minimal edema	none	mild LD	c.1159C>T	10	p.Arg387∗
	II-2a	female	−7.2	congenital, bilateral, and lower limb	none	mild LD and dysmorphic features	c.1159C>T	10	p.Arg387∗
MLCRD02	I-1	female	−1.6	none	diabetic retinopathy	mild LD	c.3016delA	21	p.Ile1006Leufs∗62
	II-2a	female	−4.0	congenital, bilateral, and lower limb	none	mild dysmorphic features	c.3016delA	21	p.Ile1006Leufs∗62
MLCRD03	II-1	male	−2.0	none	none	mild LD	c.1039_1040delCT	9	p.Leu347Glufs∗8
	III-2a	female	−7.5	congenital, bilateral, and lower limb plus pleural effusions	hypermetropic astigmatism and chorioretinopathy	mild LD	c.1039_1040delCT	9	p.Leu347Glufs∗8
MLCRD06	I-1	male	−4.3	congenital, bilateral, and lower limb	none	low birth weight, failure to thrive,	c.432T>G	5	p.Phe144Leu
MLCRD07	I-1c	male	−2.3	congenital, bilateral, and lower limb	bilateral chorioretinopathy	mild LD, ASD, and myoclonic epilepsy	c.2830C>T (de novo)	20	p.Arg944Cys
MLCRD08	I-1	male	−3.5	none	none	none	c.1425_1426delinsAAA	12	p.Val476Asnfs∗2
	II-1	male	−5.5	congenital, mild, bilateral, and lower limb	myopia	moderate LD	c.1425_1426delinsAAA	12	p.Val476Asnfs∗2
MLCRD09	I-1	female	−3.0	none	none	none	c.1592delA	13	p.Gln531Argfs∗8
	II-1d	male	−4.0	congenital, bilateral, and lower limb	bilateral chorioretinopathy	ASD and dysmorphic features	c.1592delA	13	p.Gln531Argfs∗8
MLCRD10	I-1	male	−5.5	congenital, mild, bilateral, and mild lower limb (resolved)	bilateral chorioretinopathy	mild LD	c.699-2A>G (de novo)	6/7	acceptor splice site
MLCRD11	II-1	male	low by history	congenital, bilateral, and lower limb plus mild in hands	none	none	c.2547+2T>C	18/19	donor splice site
	III-2	female	−4.7	none	none	mild LD	c.2547+2T>C	18/19	donor splice site
	IV-1	male	−4.0	congenital, bilateral, and lower limb plus mild in hands	none	moderate LD and hypospadias	c.2547+2T>C	18/19	donor splice site
	IV-3	male	−3.7	congenital, mild, bilateral, and lower limb	none	moderate LD	c.2547+2T>C	18/19	donor splice site
	IV-5	female	−4.1	none	none	mild LD	c.2547+2T>C	18/19	donor splice site
MLCRD12	I-1	male	−6.4	congenital, mild, bilateral, and lower limb	bilateral chorioretinopathy	moderate LD	c.1963_1964dupAA	15	p.His656Serfs∗8
CDMMR01	II-1	female	−5.0	adult onset and post-traumatic mild edema	chorioretinopathy	mild LD	c.1159C>T (de novo)	10	p.Arg387∗
	III-1	male	−5.5	none	hypermetropic astigmatism and chorioretinopathy	moderate LD	c.1159C>T	10	p.Arg387∗
CDMMR02	I-1	female	low by history	none	bilateral chorioretinopathy	none	c.704C>G	7	p.Ser235Cys
	II-1	female	low by history	none	bilateral chorioretinopathy	moderate LD	c.704C>G	7	p.Ser235Cys
CDMMR03	I-1	male	−3.4	none	no vision in right eye (retinal detachment) and peripheral retinal atrophy in left eye	mild LD	c.2304_2305delCA (de novo)	18	p.His768Glnfs∗7
CDMMR04	I-1	male	−5.1	none	chorioretinopathy, nystagmus, and exotropia	moderate LD	c.700C>T	7	p.Arg234Cys
CDMMR05	II-1	female	−3.9	none	chorioretinopathy	mild LD	c.1804C>T	14	p.Gln602∗
	II-2	female	−6.1	none	hypermetropic astigmatism	none	c.1804C>T	14	p.Gln602∗

Abbreviations are as follows: LD, learning difficulties; and ASD, atrial septal defect. Please see main text for additional abbreviations.

^aIndividuals exome sequenced in primary analysis.

^bHead circumference measured as occipitofrontal head circumference in cm and corrected for age and sex.

^cCase description in Vasudevan et al. (2005).⁴

^dCase description in Eventon-Friedman et al. (2009).²⁴