Microcephaly, growth restriction, and increased sister chromatid exchange 2

Preferred Label : Microcephaly, growth restriction, and increased sister chromatid exchange 2;

Symbol : MGRISCE2;

CISMeF acronym : MGRISCE2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the topoisomerase, DNA, III, alpha gene (TOP3A, 601243.0001);

Laboratory abnormalities : Skeletal muscle biopsy from 1 patient showed mitochondrial DNA depletion; Patient cells show increased number of sister chromatid exchanges (SCEs);

Prefixed ID : #618097;

Details

Origin ID

618097;

UMLS CUI

C4748176;

Genes related to phenotype
- Topoisomerase, dna, III, alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Congenital onset [HPO term]
- Decreased body weight [HPO term]
- Dilated cardiomyopathy [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Recurrent infections [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Malar rash [HPO term]
ORDO concept(s)
- Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients