RAB40AL

RAB40A like
OMIM: 300405, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red RAB40AL in Mendeliome


Version 1.3795

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Genetic Health Queensland
  • Expert Review Red
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
Tags
  • refuted

Red RAB40AL in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.497

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
Tags
  • refuted