Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies; Ndmsba
Description
NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).
Genes related to Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies; Ndmsba
- PLAA
Clinical Features
Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies; Ndmsba
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Nystagmus
- Micrognathia
- Failure to thrive
- Spasticity
- Flexion contracture
Incidence and onset information
— Not enough data available about incidence and published cases.
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Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies; Ndmsba Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
PLAA.
By Fulgent Genetics Fulgent Genetics in United States.
PLAA
Specificity
100 %
Genes
100 % |
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