PROSER1

proline and serine rich 1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PROSER1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Syndromic disease MONDO:0002254, PROSER1-related
Tags
  • founder

Red PROSER1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254, PROSER1-related
  • Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM #
Tags
  • founder