Table 1 Summary of the clinical features in the patients described in this report (P1 = patient 1, P2 = patient 2), together with those from previous publications (− = not reported)

No. (sex) patients, ethnicity

4 (3f, 1 m) Northern Pakistani

4 (2f, 2 m) Northern Pakistani

1 (f) Somalian

2 (f) Northern Pakistani

2 (m) Italian

Microcephaly at birth

yes

yes

yes (−3.7 SDS)

yes

yes (−3.5 SDS)

Microcephaly later

−6 to −8 SDS

−4 to −7 SDS

−8.9 SDS

−5 to −7 SDS

−3.5 to −5.9 SDS

Height/weight at birth

-

1 patient with low birth weight (1.9 kg at term)

low birth weight at term (2.4 kg, -2.4 SDS) and length (−3.7 SDS)

-

P1: height −4.1 SD at 3 m; P2: Normal (25^th-50^th centile)

Height/weight later

-

-

-

-

P1: normal at age 9y; P2: 3^rd centile at age 2y

Intellectual disability

mild-moderate

mild-moderate (IQ51-65)

-

moderate

mild-moderate (IQ50-69)

Speech disorder

-

-

-

-

yes

Sloping forehead

yes

yes

yes

yes

yes

Other malformations

-

-

-

-

Simian crease, large map-like hyperpigmentation

Milestones

-

-

slightly delayed

-

slightly delayed

Muscular Hypotonia

-

-

yes

-

high-arched palate in patient 2

Muscle reflexes

-

-

-

-

increased in patient 1 (no pyramidal signs)

Joint laxity

-

-

yes

-

no

Decreased muscle bulk

-

-

yes

-

no

Behavioral problems

-

-

no

-

yes, severe irritability and aggression

Hearing

one patient (f) with profound congenital sensorineural deafness

-

postnatal onset moderate-severe sensorineural deafness

-

no

Malignancy

acute lymphoblastic leukemiain one female patient

-

-

-

no

Seizures

one female patient

-

-

-

no

cMRI

-

-

microcephaly, no structural abnormality

not reported

microcephaly, simplified gyral pattern frontally, corpus callosum agenesis/hypogenesis (P1 and P2)

Other

gastrostomy feeding needed

abdominal hernia (P1)

Reference

[3]

[4]

[5]

[3]

this study