Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 14; Mddga14
Genes related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 14; Mddga14
- GMPPB
Clinical Features
Top most frequent phenotypes and symptoms related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 14; Mddga14
- Global developmental delay
- Hearing impairment
- Microcephaly
- Ataxia
- Sensorineural hearing impairment
- Muscle weakness
- Cleft palate
- Feeding difficulties
- Intellectual disability, severe
- Hypertonia
And another 8 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 Brain And Eye Anomalies), Type A, 14; Mddga14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related.
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 Brain And Eye Anomalies), Type A, 14; Mddga14 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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 % |
Neuromuscular Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)
View the complete list with 91 more genes
Specificity
1 %
Genes
100 % |
Cerebral Cortical Malformation Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
Lissencephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Comprehensive Lissencephaly Panel.
By Genetic Services Laboratory University of Chicago (United States).
SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
Cobblestone Lissencephaly Panel.
By Genetic Services Laboratory University of Chicago (United States).
SNAP29, RXYLT1, B4GAT1, FKRP, ATP6V0A2, POMGNT1, POMT2, GMPPB, SRD5A3, POMK, B3GALNT2, FKTN, ISPD, LAMA2, LAMB1, LARGE1, POMT1
Specificity
6 %
Genes
100 % |
Limb-Girdle Muscular Dystrophy Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1 , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Cerebral Cortical Malformations Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
You can get up to 54 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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