ASAH2

N-acylsphingosine amidohydrolase 2
OMIM: 611202, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ASAH2 in Mendeliome


Version 1.4693

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092

Red ASAH2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.741

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092