Brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay

Preferred Label : Brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 112370;

Details

Origin ID

112370;

UMLS CUI

C1862171;

Currated CISMeF NLP mapping
- Brachmann-De Lange-Like facial changes with microcephaly, metatarsus adductus, and developmental delay [MeSH concept]
- Brachmann-De Lange-Like facial changes with microcephaly, metatarsus adductus, and developmental delay [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Autosomal dominant inheritance [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Unusual dermatoglyphics [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachmann-De Lange-Like facial changes with microcephaly, metatarsus adductus, and developmental delay [MeSH Supplementary Concept]
- Brachmann-De Lange-Like facial changes with microcephaly, metatarsus adductus, and developmental delay [MeSH concept]

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