Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| loss of function
|
may be implicated in human hydrocephalus and other ciliopathy-related disorders | constitutional
|  
| deletion
|  
|  
|
hemizygous deletion of ULK4 gene in 1.2/1,000 patients with pleiotropic symptoms including severe language delay and learning difficulties | constitutional
|  
| deletion
|  
|  
|
were significantly associated with development of thoracic aortic disease | |