DPYSL5

dihydropyrimidinase like 5
OMIM: 608383, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DPYSL5 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome 4, MIM# 619435
  • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Green DPYSL5 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome 4, MIM# 619435
  • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Green DPYSL5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome 4, MIM# 619435
  • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities