Colobomatous Microphthalmia-rhizomelic Dysplasia Syndrome
Description
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
Genes related to Colobomatous Microphthalmia-rhizomelic Dysplasia Syndrome
- LRBA
- MAB21L2
Clinical Features
Top most frequent phenotypes and symptoms related to Colobomatous Microphthalmia-rhizomelic Dysplasia Syndrome
- Intellectual disability
- Nystagmus
- Strabismus
- Abnormal facial shape
- Cataract
- Cryptorchidism
- Flexion contracture
- Epicanthus
- Macrocephaly
- Syndactyly
And another 21 symptoms. If you need more information about this disease we can help you.
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
Colobomatous Microphthalmia-rhizomelic Dysplasia Syndrome Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia, syndromic 14, microphthalmia-coloboma-rhizomelic skeletal dysplasia, mcops14.
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.Colobomatous Microphthalmia-rhizomelic Dysplasia Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
LRBA Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
LRBA
Specificity
100 %
Genes
50 % |
LRBA Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
LRBA
Specificity
100 %
Genes
50 % |
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)
View the complete list with 21 more genes
Specificity
3 %
Genes
50 % |
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.
By Genetic Services Laboratory University of Chicago (United States).
BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)
View the complete list with 21 more genes
Specificity
3 %
Genes
50 % |
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...)
View the complete list with 15 more genes
Specificity
3 %
Genes
50 % |
Humoral dysfunction Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
50 % |
Humoral dysfunction Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
50 % |
Humoral dysfunction Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
50 % |
You can get up to 32 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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