Bone marrow failure syndrome 4

Preferred Label : Bone marrow failure syndrome 4;

Symbol : BMFS4;

CISMeF acronym : BMFS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Myb-like, SWIRM, and MPN domains-containing protein 1 gene (MYSM1, 612176.0001);

Prefixed ID : #618116;

Details

Origin ID

618116;

UMLS CUI

C4748257;

Genes related to phenotype
- Myb-like, swirm, and mpn domains-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Congenital onset [HPO term]
- Decreased circulating antibody level [HPO term]
- Dry skin [HPO term]
- Eczema [HPO term]
- Global developmental delay [HPO term]
- Leukopenia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Recurrent respiratory infections [HPO term]
- Rhizomelia [HPO term]
- Short stature [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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