ASPARAGINE SYNTHETASE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 108370
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:0011451) Congenital microcephaly 6 / 7739
2
 (HPO:0001257) Spasticity 251 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0003217) Hyperglutaminemia 9 / 7739
6
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
7
 (HPO:0012448) Delayed myelination 51 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: