Microcephaly-micromelia Syndrome; Mimis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Microcephaly-micromelia Syndrome; Mimis

DONSON

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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

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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.

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 Panel complete gene list XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR, RBBP8 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 Panel complete gene list XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR, RBBP8 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 Panel complete gene list XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR, RBBP8 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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