Table 1.

Summary of Clinical Findings in HPMRS-Affected Individuals Carrying PGAP2, PIGO and PIGV Mutations

Features	Human Phenotype Ontology ID11	Affected Individual in Family A	Affected Individual in Family B	Individuals with PIGO Mutations (n = 3)	Individuals with PIGV Mutations (n = 14)a
Sex	NA	female	male	females	9 females and 5 males
Age at last assessment	NA	28 years	3.5 years	20 months to 15 years	7 months to 17 years
Origin	NA	Finnish	Turkish	European	German, Maroccan, Dutch, Polish, British, and European American
Height (SD)	NA	−0.9	+0.6	−1.4 to −4.2	normal in 13/14
Weight (SD)	NA	normal	−1.0	+0.6 to −3.3	normal in 13/14
OFC (SD)	NA	normal	−4.5	+0.7 to −5.5	normal in 12/14
Hyperphoshatasiab	HP:0003155	+	+	3/3	14/14
Intellectual disabilityb	HP:0001263	mild	+	3/3	14/14
Age at walking	NA	18 months	no walking	delayed	delayed
Delayed speech and language development	HP:0000750	−	+	3/3	14/14
Muscular hypotonia	HP:0001252	−	+	3/3	11/12
Seizures	HP:0001250	+	+	1/3	9/12
Apparent hypertelorism	HP:0000316	−	+	3/3	+
Long palpebral fissures	HP:0000637	−	+	3/3	+
Broad nasal bridge	HP: 0000431	+	+	3/3	+
Broad nasal tip	HP:0000455	−	+	3/3	+
Tented upper lip vermilion	HP:0010804	+	+	3/3	+
Brachytelephalangy	HP:0009882	normal appearing fingernails	short fifth fingernail	3/3	14/14
Anorectal abnormalities and/or constipation	HP:0002025 (anal stenosis)	−	+	3/3	6/12
Aganglionic megacolon	HP:0002251	−	+	1/3	2/14
Heart defect	HP:0001631	−	+	+	1/14
Cleft palate	HP:0000175	−	+	0/3	3/14
Hearing impairment	HP:0000365	−	+	0/3	3/14

The following abbreviations are used: NA, not applicable; and OFC, occipitofrontal head circumference.

^aNot all features were documented in the reported individuals.

^bConsistent features.