Phenotypes associated with the disease van den Bosch syndrome (OMIM:314500):
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: IEA. (OMIM:314500)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: IEA. (OMIM:314500)
- Acrokeratosis (HP:0200016): Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. Evidence: IEA. (OMIM:314500)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: TAS. (OMIM:314500)
- Contiguous gene syndrome (HP:0001466): A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes. Evidence: TAS. (OMIM:314500)
- Chorioretinal scalloped atrophy (HP:0001139): Well-defined, pale patches in the fundus. Evidence: IEA. (OMIM:314500)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:314500)