| Symbol
| PCDST
|
| Location
| 1q24.3
|
| Name
|
pituitary and cerebellar defects and small sella turcica |
| Other name(s)
|
pituitary hormone deficiency, combined, 4
short stature, pituitary and cerebellar defects, and small sella turcica |
| Corresponding gene
|
LHX4
|
| Other symbol(s)
| CPHD4
|
| Main clinical features
|
multiple pituitary hormone deficiencies associated with pituitary hypoplasia, ectopic neurohypophysis, and Chiari syndrome, but also hyperplastic pituitary, poorly developed sella turcica, and inconstant brain malformations |
| Genetic determination
| autosomal recessive |
| Prevalence
| 1p100 of combined pituitary hormone deficiency
|
| Function/system disorder
| endocrinology |
| Type
| disease
|