AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 204730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria 65 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0000939) Osteoporosis 129 / 7739
4
 (HPO:0003510) Severe short stature 90 / 7739
5
 (HPO:0001941) Acidosis 9 / 7739
6
 (HPO:0003560) Muscular dystrophy 88 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: