Rahman syndrome

Preferred Label : Rahman syndrome;

Symbol : RMNS;

CISMeF acronym : RMNS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the histone gene cluster 1, H1 histone family, member E gene (HIST1H1E, 142220.0001);

Prefixed ID : #617537;

Details

Origin ID

617537;

UMLS CUI

C4479637;

Genes related to phenotype
- Histone gene cluster 1, h1 histone family, member e [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Amblyopia [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Camptodactyly [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Macrocephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Nevus [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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