Condition: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
rs1057521927
in
PRUNE1
gene and
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
PMID 26539891
2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
PMID 28211990
2017 Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
PMID 28334956
2017 PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.