ATAXIA-MICROCEPHALY-CATARACT SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: AMC SYNDROME
Number of Symptoms 10
OrphanetNr:
OMIM Id: 208870
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000519) Congenital cataract 73 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0010547) Muscle flaccidity 466 / 7739
7
 (HPO:0001324) Muscle weakness 859 / 7739
8
 (HPO:0001252) Muscular hypotonia 990 / 7739
9
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: