Table 1.

The clinical feature of the previously reported patients with Hyperphosphatasia with Mental Retardation syndrome types (HPMRS).

Type	HPMRS1	HPMRS2	HPMRS3	HPMRS4	HPMRS5	HPMRS6	HPMRS7⁎
Gene	PIGV	PIGO	PGAP2	PGAP3	PIGW	PIGY	PIGL
No. of reported cases	29	3	13	5	1	4	4(2 in this report)
Cognitive impairment	+	+	+	+	+	+	+
Seizure	+	+	+	+	+	+	+
High ALP	+	+	+	+	+	+	+
Growth	NA	Poor growth	NA	Poor growth	NA	Poor growth	Normal
Dysmorphic features	+	+	NA	+	+	+	+
Heart defects	VSD	ASD	NA	NA	NA	NA	No
GI/GU anomalies	Feeding problem Anorectal anomalies	Anal stenosis/atresia vesicoureteral reflux	NA	NA	NA	Poor feeding renal dilatation increased renal parenchyma echogenicity	Hepatomegaly mild elevated transaminases
Brian, skull anomalies	Plagio-cephaly	Microcephaly enlarged ventricles plagiocephaly coronal synostosis	Micro-cephaly cerebral atrophy	Micro-cephaly	NA	Microcephaly	Thin corpus callosum
Skeletal anomalies	Hypoplastic terminal phalanges tapered fingers hypoplastic toes bilateral adducted forefoot hypoplastic/curved nails	Brachy-telephalangy broad halluces hypoplastic/absent nails	NA	NA	NA	Joint contractures osteopenia Hip dysplasia proximal limb shortening brachyphalangy clinodactyly	Bilateral brachydactly severe clinodactly of fifth figures bilateral clinodactly (4th and 5th toes)

Abbreviations: *the proposed 7th type of HPMRS in this report, MR: Mental retardation, ALP: alkaline phosphatase, NA: not available, GI/GU: gastrointestinal and genitourinary systems.