Disease association ontology term - MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome
Term summary
- ID
- MONDO:0011053
- Name
- intellectual disability-sparse hair-brachydactyly syndrome
- Ontology or CV name
- Disease association
- Definition
- Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
