Cataract, ataxia, short stature, and impaired intellectual development

Preferred Label : Cataract, ataxia, short stature, and impaired intellectual development;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Casm syndrome; Cataract, ataxia, short stature, and mental retardation;

Inheritance : X-linked recessive;

Prefixed ID : %300619;

Details

Origin ID

300619;

UMLS CUI

C1845094;

Automatic exact mappings (from CISMeF team)
- Cataracts, ataxia, short stature, and mental retardation [MeSH concept]
- cataracts, ataxia, short stature, and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Dysarthria [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Muscle weakness [HPO term]
- Posterior subcapsular cataract [HPO term]
- Postural tremor [HPO term]
- Short stature [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataracts, ataxia, short stature, and mental retardation [MeSH concept]
- cataracts, ataxia, short stature, and mental retardation [MeSH Supplementary Concept]

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