Meta-Analysis of Clinical Phenotype and Patient Survival in Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies Due to Bi-allelic Loss of Function Variants in SMPD4
This paper analyzes clinical data from NEDMABA cases to identify phenotype clusters and survival probabilities using MCA and Kaplan-Meier estimation.
medRxiv · Oct 8, 2022 · PreprintGenetic & Genomic Medicine