UBAP2L

ubiquitin associated protein 2 like
OMIM: 616472, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green UBAP2L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
  • Delayed speech and language development
  • Motor delay
  • Intellectual disability
  • Autistic behavior
  • Seizures
  • Microcephaly
  • Abnormality of head or neck
  • Short stature
  • Abnormality of the skeletal system