Microcephaly-micromelia Syndrome; Mimis

Description

Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly-micromelia Syndrome; Mimis

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Short neck
  • Microphthalmia

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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.


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Microcephaly-micromelia Syndrome; Mimis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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