Mental Retardation, Autosomal Recessive 61; Mrt61

Description

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 61; Mrt61

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape
  • Spasticity
  • Low-set ears

And another 31 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.)
No data available about the known clinical features onset.

Alternative names

Mental Retardation, Autosomal Recessive 61; Mrt61 Is also known as alwadei syndrome.

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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Mental Retardation, Autosomal Recessive 61; Mrt61 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RUSC2.

By Fulgent Genetics Fulgent Genetics (United States).

RUSC2
Specificity
100 %
Genes
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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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