HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615716
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
4
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
5
 (HPO:0000455) Broad nasal tip 67 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0000431) Wide nasal bridge 290 / 7739
9
 (HPO:0002540) Inability to walk 19 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0004305) Involuntary movements 50 / 7739
13
 (HPO:0001250) Seizures 1245 / 7739
14
 (HPO:0003763) Bruxism 7 / 7739
15
 (HPO:0001510) Growth delay rare [HPO:skoehler] 295 / 7739
16
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: