Meckel Syndrome, Type 4; Mks4
Description
Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Meckel Syndrome, Type 4; Mks4
- Microcephaly
- Cleft palate
- Intrauterine growth retardation
- Ventricular septal defect
- Hypoplasia of the corpus callosum
- Hydrocephalus
- Atrial septal defect
- Microphthalmia
- Polydactyly
- Postaxial polydactyly
And another 13 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
Meckel Syndrome, Type 4; Mks4 Is also known as meckel-gruber syndrome, type 4.
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.Meckel Syndrome, Type 4; Mks4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
CEP290 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
CEP290
Specificity
100 %
Genes
100 % |
CEP290 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CEP290
Specificity
100 %
Genes
100 % |
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CEP290
Specificity
100 %
Genes
100 % |
CEP290 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CEP290
Specificity
100 %
Genes
100 % |
Leber Congential Amaurosis Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 % |
Joubert Syndrome Evaluation.
By Athena Diagnostics Inc (United States).
AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
17 %
Genes
100 % |
CEP290 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
CEP290
Specificity
100 %
Genes
100 % |
You can get up to 197 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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