|
Hyperphosphatasia
|
+/−
|
+/−
|
+
|
|
Seizures with early onset
|
+
|
+
|
+
|
|
Early death
|
+/−
|
+/−
|
−
|
|
Profound ID
|
+
|
+
|
+
|
|
Neonatal muscular hypotonia
|
+/−
|
+/−
|
+
|
|
Macrocephaly or macrosomia
|
+/−
|
+/−
|
+/−
|
|
Variable brain anomalies
|
+/−
|
+
|
+
|
|
Hyperreflexia/contractures
|
+/−
|
+/−
|
ND
|
|
Variable facial anomalies
|
+/−
|
+/−
|
+/−
|
|
Renal/vesicoureteral anomalies
|
+/−
|
+/−
|
+/−
|
|
Gastrointestinal anomalies
|
+/−
|
+/−
|
ND
|
|
Cardiovascular abnormalities
|
ND
|
+/−
|
ND
|
|
Cleft palate
|
+
|
+/−
|
−
|
|
Diaphragmatic defect
|
−
|
+/−
|
−
|
|
Short distal phalanges
|
−
|
+/−
|
−
|
|
Elevated alkaline phosphatase (AP)
|
+/− (5/23 elevated AP)
|
−
|
Decreased AP
|
|
Abnormal flow cytometry results
|
+/ND
|
+/ND
|
+/ND
|
|
Published cases
|
Johnston et al. 2012 [10]
|
Maydan et al. 2011 [12]
|
Kvarnung 2013 [11]
|
|
van der Crabben et al. 2014 [15]
|
Brady et al. 2014 [48]
|
Nakashima 2014 [54]
|
|
Swoboda et al. 2014 [43]
|
Ohba et al. 2014 [47]
|
Lam 2015 [55]
|
|
Kato et al. 2014 [14]
|
Couser et al. 2015 [49]
|
Skauli 2015 [56]
|
|
Belet et al. 2014 [42]
|
Fleming et al. 2015 [52]
|
Kohashi 2017 [57]
|
|
Tarailo-Graovac et al. 2015 [44]
|
Khayat et al. 2015 [53]
|
Pagnamenta 2017 [40]
|
|
Joshi et al. 2016 [46]
|
Nakagawa et al. 2016 [50]
|
3 unpublished cases
|
|
Fauth et al. 2016 [13]
|
Jezela-Stanek et al. 2016 [18]
|
|
Kim et al. 2016 [45]
|
McInerney-Leo et al. 2016 [51]
|
|
9 unpublished cases
|
