Disease ID | Source | Name | Description |
617157 | OMIM | Short stature, brachydactyly, impaired intellectual developmental, and seizures (SBIDDS) | An autosomal recessive disease characterized by developmental delay, learning disabilities, mild mental retardation, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals. The disease is caused by variants affecting the gene represented in this entry. |