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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

2022-10-10

Abstract excerpt

<h4>ABSTRACT</h4> A recently described, rare genetic condition known as Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies (NEDMABA) has been identified in children with bi-allelic loss-of-function variants in SMPD4 . The progression of this condition is not well understood with the limited case reports described so far exhibiting a severe and clinically diverse phenotype...

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Literature Corpus work: dfab780c-1b5f-502e-bf17-1649a233e630
DOI: 10.1101/2022.10.08.22280875

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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 SMPD4DOI 10.1101/2022.10.08.22280875Read

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