Hyperphosphatasia-intellectual deficiency syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HPMR
Mabry syndrome
Number of Symptoms 35
OrphanetNr: 247262
OMIM Id: 239300
614207
614749
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002714) Downturned corners of mouth 6/7 [HPO] 98 / 7739
2
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
3
 (HPO:0000219) Thin upper lip vermilion common [HPO] 112 / 7739
4
 (HPO:0000637) Long palpebral fissure common [HPO] 21 / 7739
5
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
6
 (HPO:0002553) Highly arched eyebrow 92 / 7739
7
 (HPO:0000431) Wide nasal bridge 6/7 [HPO] 290 / 7739
8
 (HPO:0000316) Hypertelorism 6/7 [HPO] 644 / 7739
9
 (HPO:0001357) Plagiocephaly 106 / 7739
10
 (HPO:0001090) Large eyes common [HPO] 20 / 7739
11
 (HPO:0011800) Midface retrusion 221 / 7739
12
 (HPO:0000303) Mandibular prognathia 179 / 7739
13
 (HPO:0000455) Broad nasal tip 6/7 [HPO] 67 / 7739
14
 (HPO:0000272) Malar flattening 277 / 7739
15
 (HPO:0000322) Short philtrum 130 / 7739
16
 (HPO:0000582) Upslanted palpebral fissure common [HPO] 185 / 7739
17
 (HPO:0000204) Cleft upper lip 1/7 [HPO] 193 / 7739
18
 (HPO:0000358) Posteriorly rotated ears common [HPO] 163 / 7739
19
 (HPO:0000407) Sensorineural hearing impairment 2/3 [HPO] 524 / 7739
20
 (HPO:0010864) Intellectual disability, severe 120 / 7739
21
 (HPO:0001344) Absent speech hallmark [HPO:skoehler] 57 / 7739
22
 (HPO:0001249) Intellectual disability 7/7 [HPO] 1089 / 7739
23
 (HPO:0002251) Aganglionic megacolon 1/7 [HPO] 78 / 7739
24
 (HPO:0001250) Seizures 3/5 [HPO] 1245 / 7739
25
 (HPO:0001831) Short toe rare [HPO:skoehler] 52 / 7739
26
 (HPO:0009882) Short distal phalanx of finger 7/7 [HPO] 125 / 7739
27
 (HPO:0001216) Delayed ossification of carpal bones 2/3 [HPO] 30 / 7739
28
 (HPO:0001182) Tapered finger 93 / 7739
29
 (HPO:0001545) Anteriorly placed anus 2/5 [HPO] 55 / 7739
30
 (HPO:0002019) Constipation 2/5 [HPO] 194 / 7739
31
 (HPO:0001792) Small nail common [HPO] 55 / 7739
32
 (HPO:0003155) Elevated alkaline phosphatase 7/7 [HPO] 52 / 7739
33
 (HPO:0001252) Muscular hypotonia 5/5 [HPO] 990 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (HPO:0000238) Hydrocephalus 1/3 [HPO] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: