Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Mddgb5
Description
MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).
Genes related to Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Mddgb5
- FKRP
Clinical Features
Top most frequent phenotypes and symptoms related to Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Mddgb5
- Intellectual disability
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Flexion contracture
- Feeding difficulties
- Ventriculomegaly
- Cerebellar atrophy
- Intellectual disability, mild
- Kyphosis
And another 34 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
Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Mddgb5 Is also known as muscular dystrophy, congenital, fkrp-related, mdc1c, muscular dystrophy, congenital, 1c.
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.Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Mddgb5 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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FKRP DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
FKRP
Specificity
100 %
Genes
100 % |
Limb Girdle Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc (United States).
SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
Comprehensive Cardiac Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
You can get up to 169 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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