FRMPD4

FERM and PDZ domain containing 4
OMIM: 300838, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FRMPD4 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, X-linked 104, MIM#300983

Green FRMPD4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 104, MIM#300983

Green FRMPD4 in Fetal anomalies


Version 1.314

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual Disability, X-linked 104, MIM#300983