CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs: CASM SYNDROME
Number of Symptoms 14
OrphanetNr:
OMIM Id: 300619
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007787) Posterior subcapsular cataract 20 / 7739
2
(HPO:0001251) Ataxia 413 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0002174) Postural tremor 22 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0001252) Muscular hypotonia 990 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0010547) Muscle flaccidity 466 / 7739
10
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
(HPO:0001419) X-linked recessive inheritance 189 / 7739
12
(OMIM) Mental retardation, mild to moderate 33 / 7739
13
(OMIM) Cortical punctate or pulverulent opacities (in carrier females) 1 / 7739
14
(OMIM) Cataract, complete 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Guo et al. (2006) reported a large 4-generation Chinese family with 6 males affected by congenital cataracts, cerebellar ataxia, short stature, and mental retardation and with 8 females affected by cataracts alone. The 4 affected males who were ...