Table 1 Summary of clinical findings in patients carrying PIGV, PIGO, PGAP2, PGAP3, PIGW, and PIGY mutations

Hyperphosphatasia

26/26

14/14, ND in 2

6/6, ND in 6

25/26

1/3

4/4

 OFC

Normal in 22/26 (microcephaly in 2/26, macrocephaly in 2/26)

Normal in 2/6 (microcephaly in 4, macrocephaly in 2, ND in 8)

Normal in 5/12 (microcephaly in 7)

Normal in 17/26 (microcephaly in 7, macrocephaly in 2)

Normal in 2 (ND in 1)

Normal in 2/4 (microcephaly in 2)

 Height

Normal in 24/26

Normal in 3/5 (short stature in 2, ND in 11)

Normal in 2/2, ND in 10

Normal in 25/26 (short stature in 1/26)

Normal in 2 (ND in 1)

Normal in 2/4 (short stature in 2/4)

 Weight

Normal in 24/26

Normal in 4/5 (dystrophy in 1, ND in 11)

Normal in 2/2, ND in 10

Normal in 21/26 (overweight in 2/26, dystrophy in 3/26)

Normal in 2 (ND in 1)

ND

 Global developmental delay

26/26

16/16

2/2

26/26

3/3

4/4

 Motor delay

26/26

16/16

12/12 (mild in 5)

26/26

3/3

4/4

 Speech and language developmental delay

26/26 (no speech in 6/10)

16 (no speech in 5/16)

11/12

26/26 (no speech in 20/26)

3/3

4/4

 Muscular hypotonia

18/24, ND in 2

11/11, ND in 5

5/6, ND in 6

23/26

2/2, ND in 1

ND

 Seizures

20/26

11/12, ND in 4

8/12

17/26

Autistic traits 1/3

2/4

 Behavioral abnormalities

ND

ND

ND

21/26

ND

2/4

 Other neurological abnormalitites

Hearing loss

Hearing impairment (5/16), thin corpus callosum

Hearing impairment

Ataxia (10/26); no walking in 8/26

-

Regression of acquired skills (2/4)

HPMRS1 (PIGV)

HPMRS2 (PIGO)

HPMRS3 (PGAP2)

HPMRS4 (PGAP3)

HPMRS5 (PIGW)

HPMRS6 (PIGY)

 Cleft palate

8/26

4/16

1/12

15/26

-

0/4

 Megacolon

8/26

5/16

1/12

0/26

-

0/4

 Anorectal malformations

9/26

3/16

1/12

0/26

-

0/4

 Vesicoureteral/renal malformations

6/10

2/16

ND

0/26

-

1/4

 Heart defect

5/26

2/16

2/12

2/26

-

0/4

 Apparent hypertelorism

26/26

6/6, ND in 10

1/12

12/13, ND in 13

ND

1/4

 Up-slanting palpebral fissure

26/26

10/11, ND in 5

ND in 12

2/26

ND

0/4

 Broad nasal bridge

26/26

5/6, ND in 10

2/12

13/13, ND in 13

1/3 ND in 2

1/4

 Broad nasal tip

26/26

5/6, ND in 10

1/12

4/14, ND in 12

ND

1/4

 Short nose

26/26

5/6, ND in 10

1/12

14/24, ND in 2

ND

ND

 Tented upper lip vermilion

26/26

7/8, ND in 8

2/12

17/24, ND in 21

3/3

ND

 Large, fleshy ear lobes

-

1/16

18/24, ND in 21

ND

4/4

 Brachytelephalangy

26/26

10/10, ND in 6

0/12 (broad nails in 1/12)

0/26 (broad nails in 6/26)

-

1/4

 Further anomalies (rare)

Gastroesophageal reflux, optic atrophy bilateral, scoliosis, hip subluxation (right), thin corpus callosum, gingiva hyperplasia

Coronal synostosis, keratoderma, micrognathia, auricular malformations

Thin corpus callosum (9/26), ventriculomegaly (3/26), vermis hypoplasia (4/26)

Inguinal hernia (1/3)

Cataracts (2/4)

Rhizomelic shortness of limbs (2/4)

Contractures (2/4)

Hip dysplasia (2/4)

 Published cases

Rabe et al. 1991 [33]

Krawitz et al. 2012 [7]

Hansen et al. 2013 [4]

Howard et al. 2014 [5]

Chiyonobu et al. 2014 [3]

Ilkovski et al. 2015 [6]

Marcelis et al. 2007 [34]

Kuki et al. 2013 [36]

Krawitz et al. 2013 [8]

Knaus et al. 2016 [19]

Hogrebe et al. 2016 [20]

Krawitz et al. 2010 [9] and Horn et al. 2010 [60]

Nakamura et al. 2014 [16]

Jezela-Stanek et al. 2016 [18]

Pagnamenta et al. 2017 [40]

Horn et al. 2011 [28]

Xue et al. 2016 [31]

Naseer et al. 2016 [38]

Nampoothiri et al. 2017 [41]

Thompson et al. 2012 [29]

Morren et al. 2017 [35]

Abdel-Hamid et al. 2017 [39]

Horn et al. 2014 [30]

Zehavi et al. 2017 [17]

2 unpublished cases

Xue et al. 2016 [31]

Tanigawa 2017 [37]

Reynolds et al. 2017 [32]

6 unpublished cases