|
Characteristics
|
F1 (P1-P4)
|
F2 (P5)
|
F3 (P6)
|
F4 (P7-P8)
|
F5 (P9-P10)
|
F6 (P11-P12)
|
P13
|
P14
|
P15
|
|
Ethnicity
|
Pakistani
|
Pakistani
|
Turkish
|
Saudi Arabian
|
Saudi Arabian
|
Slovak
|
Caucasian
|
Caucasian
|
Chinese
|
|
Number of patients
|
3 males & 1 female
|
1 male
|
1 male
|
2 females
|
1 male & 1 female
|
1 male & 1 female
|
1 male
|
1 male
|
|
Survival and reported age
|
died in the first 5 years of life
|
alive,NA
|
alive,7 years, 5.5 years
|
alive,3.5 years, NA
|
alive,19 years,17 years
|
alive,15 years
|
died at the age of 10 years
|
alive,8 months
|
|
Postnatal growth delay
|
–
|
–
|
–
|
+
|
+
|
+
|
+
|
+
|
+
|
|
Mental retardation
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
|
Microcephaly
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
|
Corpus callosum Agenesis
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
|
Ventricular enlargement
|
+
|
+
|
+
|
+
|
+
|
+
|
NA
|
NA
|
+
|
|
Cerebellum
|
Hypoplastic
|
Hypoplastic
|
Hypoplastic
|
Proportionate reduction
|
Proportionate reduction
|
Hypoplastic
|
Proportionate reduction
|
NA
|
normal
|
|
Seizures
|
+
|
+
|
+
|
–
|
+
|
+
|
+
|
single seizure during infancy
|
–
|
|
Muscle tone
|
NA
|
NA
|
NA
|
increased
|
decreased
|
NA
|
NA
|
NA
|
increased
|
|
prominent broad nasal bridge
|
NA
|
NA
|
NA
|
+
|
+
|
+
|
NA
|
NA
|
+
|
|
Genetic mutations
|
c.684_685delAC (hm)
|
c.684_685delAC (hm)
|
c.83 + 1G > T (hm)
|
c.684_685delAC (hm)
|
c.733dupC (hm)
|
c.-43_ + 83del (hm)
|
c.130C > T 16p13.11 deletion
|
c.908_909delGA 16p13.11 deletion
|
c.555_556GC > CT 16p13.11 deletion
|
|
Amino acid change
|
P229WfsX85
|
P229WfsX85
|
A29QfsX114
|
P229WfsX85
|
L245PfsX70
|
null allele
|
R44X
|
R303TfsX11
|
K185N&Q186X
|
