PHPX

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green PHPX STR in Repeat Disorders


Version 0.167

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123
  • Panhypopituitarism, X-linked MIM#312000
Tags
  • paediatric-onset