DPYSL2

dihydropyrimidinase like 2
OMIM: 602463, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber DPYSL2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 Aplasia/Hypoplasia of the corpus callosum, HP:0007370

Panel

Reviews

Mode of inheritance

Details

Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

review

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown