Microcephaly, Short Stature, And Limb Abnormalities; Missla

Table of contents:

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

Description

MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Genes related to Microcephaly, Short Stature, And Limb Abnormalities; Missla

DONSON

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Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly, Short Stature, And Limb Abnormalities; Missla

Intellectual disability
Global developmental delay
Short stature
Microcephaly
Growth delay
Micrognathia
Abnormal facial shape
Brachydactyly
Intrauterine growth retardation
Intellectual disability, mild

And another 14 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.

Microcephaly, Short Stature, And Limb Abnormalities; Missla 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 Rare Disease Symptoms Checker

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