1. Mendelian
  2. Rare Diseases
  3. PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Arphm

Table of contents:

Genes related to Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Arphm

  • DCHS1
  • FAT4
  • ARFGEF2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Arphm

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Hypoplasia of the corpus callosum
  • Intellectual disability, severe
  • Recurrent infections
  • Hypsarrhythmia

And another 7 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

Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Arphm Is also known as heterotopia, periventricular, autosomal recessive, periventricular nodular heterotopia 2, pvnh2.

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.

Periventricular Heterotopia With Microcephaly, Autosomal Recessive; Arphm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
38 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
38 %
Genes
100 %
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DCHS1
Specificity
100 %
Genes
34 %
Van Maldergem syndrome 1 Deletion / Duplication Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
34 %
Van Maldergem syndrome 1 NGS Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
34 %
Mitral valve prolapse 2 Comprehensive Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
34 %
Mitral valve prolapse 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
34 %
Van Maldergem syndrome 1 Comprehensive Test.

By Connective Tissue Gene Tests (United States).

DCHS1
Specificity
100 %
Genes
34 %

You can get up to 65 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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