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| Fetal anomalies v0.4670 | PCYT2 | Zornitza Stark Marked gene: PCYT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4670 | PCYT2 | Zornitza Stark Gene: pcyt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4670 | PCYT2 | Zornitza Stark Classified gene: PCYT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4670 | PCYT2 | Zornitza Stark Gene: pcyt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4532 | PCYT2 |
Belinda Chong gene: PCYT2 was added gene: PCYT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive MIM#618770 Review for gene: PCYT2 was set to RED gene: PCYT2 was marked as current diagnostic Added comment: Brain imaging shows progressive cerebral and cerebellar atrophy however, normal initially. 5 individuals from 4 families reported with progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some never achieved walking, whereas others lost the ability to walk or walk with an unsteady gait. Additional features included variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Overall poor growth, but only one individual reported with microcephaly -3SD, and head size appears relatively spared against other reported growth parameters. Sources: Literature |
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