| Disease ID | Source | Name | Description |
| 617425 | OMIM | Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) | An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. The disease is caused by variants affecting the gene represented in this entry. |