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  3. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies; Nmihba

Table of contents:

Description

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Genes related to Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies; Nmihba

  • PRUNE1

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Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies; Nmihba

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Cataract
  • Spasticity
  • Low-set ears
  • Flexion contracture

And another 36 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.

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.

Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies; Nmihba Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRUNE.

By Fulgent Genetics Fulgent Genetics (United States).

PRUNE1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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