PLAA gene related symptoms and diseases
All the information presented here about the PLAA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLAA gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Progressive microcephaly | Very Common - Between 80% and 100% cases |
Pectus carinatum | Very Common - Between 80% and 100% cases |
Severe global developmental delay | Very Common - Between 80% and 100% cases |
Smooth philtrum | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLAA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hirsutism
- Postaxial polydactyly
- Single transverse palmar crease
- Delayed myelination
- Abnormality of extrapyramidal motor function
- Intellectual disability, profound
- Hypsarrhythmia
- Tetraparesis
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLAA gene
Here you will find a list of rare diseases related to the PLAA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER
Alternate names
PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand
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).
Most common symptoms of PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER
Search interest in PLAA
Potential gene panels for PLAA gene
PLAA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLAA gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIM27 KIF3A KLF1 NPHS2 ABCD3 AKT2 LEPR