| Metadata | |
|---|---|
| ID | DOID:0081176 |
| Name | hypotonia, ataxia, and delayed development syndrome |
| Definition | A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/28017370/, https://www.ncbi.nlm.nih.gov/books/NBK570204/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/, https://pubmed.ncbi.nlm.nih.gov/34367240/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |