Microcephaly
Gene: PTPN23
Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.Created: 3 Sep 2020, 3:17 a.m. | Last Modified: 3 Sep 2020, 3:17 a.m.
Panel Version: 0.397
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Publications
Gene: ptpn23 has been classified as Green List (High Evidence).
Phenotypes for gene: PTPN23 were changed from to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Publications for gene: PTPN23 were set to
Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: PTPN23 was added gene: PTPN23 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTPN23 was set to Unknown