Microcephaly, Seizures, Spasticity, And Brain Calcifications; Missbc

Description

MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly, Seizures, Spasticity, And Brain Calcifications; Missbc

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Visual impairment
  • Hyperreflexia
  • Dysphagia
  • Hypoplasia of the corpus callosum

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Microcephaly, Seizures, Spasticity, And Brain Calcifications; Missbc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PCDH12.

By Fulgent Genetics Fulgent Genetics (United States).

PCDH12
Specificity
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Genes
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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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