Cerebrooculofacioskeletal Syndrome 1; Cofs1
Description
Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010).
Clinical Features
Top most frequent phenotypes and symptoms related to Cerebrooculofacioskeletal Syndrome 1; Cofs1
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Growth delay
- Nystagmus
- Failure to thrive
- Micrognathia
And another 53 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
Cerebrooculofacioskeletal Syndrome 1; Cofs1 Is also known as cofs syndrome, cofs, pena-shokeir syndrome, type ii.
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.Cerebrooculofacioskeletal Syndrome 1; Cofs1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Congenital Contractures Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)
View the complete list with 37 more genes
Specificity
2 %
Genes
100 % |
Dystonia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)
View the complete list with 57 more genes
Specificity
2 %
Genes
100 % |
Movement Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
Autism/Intellectual Disability/Multiple Anomalies.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
BDNF, RPS6KA3, SCN1A, BRAF, SLC2A1, SLC6A4, SLC9A6, SMC1A, KDM5C, SOS1, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C , (...)
View the complete list with 69 more genes
Specificity
2 %
Genes
100 % |
ERCC6. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ERCC6
Specificity
100 %
Genes
100 % |
Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene).
By CGC Genetics (Portugal).
ERCC6
Specificity
100 %
Genes
100 % |
Cockayne syndrome B (sequence analysis of ERCC6 gene).
By CGC Genetics (Portugal).
ERCC6
Specificity
100 %
Genes
100 % |
You can get up to 64 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MIRAGE SYNDROME; MIRAGE EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8