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.

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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

SOURCES: OMIM ORPHANET


Potential gene panels for PLAA gene

PLAA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PLAA gene.

More info about this panel


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