GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Laryngo-onycho-cutaneous Syndrome(Shabbir syndrome) 
An Autosomal recessive mode(s) within the Skin disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 LAMA3/3909 laminin subunit alpha 3 18q11.2 Chr18, NC_000018.10
(23689453..23955066)
265614 nt 79 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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Clinical Symptoms & Disabilities