Genetic & Genomic MedicinemedRxivPreprint
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.
DOI 10.1101/2022.10.08.22280875