Table 1

Clinical features of individuals with biallelic variants in MCM7

Pedigree 1
II.2II.3II.6
GenderMaleFemaleMale
Age (years)20188
GeneMCM7MCM7MCM7
MCM7 variant
(NM_005916.4)
g.7:99695841C>T, c.793G>A, p.Ala265Thrg.7:99695841C>T, c.793G>A, p.Ala265Thrg.7:99695841C>T, c.793G>A, p.Ala265Thr
HeadMicrocephalyMicrocephalyMicrocephaly
OFC (cm)52 (−3.31 SD)51 (−2.64 SD)50 (−2.07 SD)
Body
Body weight (kg)41 (−4.77 SD)39 (−3.73 SD)20 (−2.82 SD)
Height (cm)163.5 (−2.51 SD)150.5 (−2.36 SD)112 (−3.96 SD)
Motor development
Motor skills
Walking
Climbing stairs


Mildly impaired
Normal
Severely impaired


Mildly impaired
Normal
Severely impaired


Mildly impaired
Normal
Severely impaired
Intellectual disability
Speech impairment
Daily activities
Severe
Severe (unable to form complete sentences)
Cannot be performed
Severe
Severe (unable to form complete sentences)
Cannot be performed
Hyperphagia
Severe
Severe (unable to form complete sentences)
Cannot be performed
Repetitive finger movements and clapping
EpilepsyNoNoNo
Febrile seizuresYes, at 2 monthsYes, at 2 monthsYes, at 2 months
Behavioural problemsHyperactivity
Aggression
No toilet training, no self-cleaning
Nocturnal incontinence
Hyperactivity
Aggression
No toilet training, no self-cleaning
Hyperactivity
Aggression
No toilet training, no self-cleaning
Nocturnal incontinence
Facial dysmorphismNoNoFrontal bossing
Eye abnormalitiesNoNoNo
Visual impairmentNoNoNo
Ear abnormalitiesNoNoNo
Hearing impaimentNoNoNo
MouthNoNoNo
Teeth abnormalitiesNoNoNo
  • OFC, occipitofrontal head circumference.