Autosomal Recessive Multiple Pterygium Syndrome
| Disease Aliases (15) | Autosomal recessive multiple pterygium syndrome Autosomal recessive non-lethal multiple pterygium syndrome Escobar syndrome Evmps Escobar variant multiple pterygium syndrome Multiple pterygium syndrome, nonlethal type Multiple pterygium syndrome escobar type Multiple pterygium syndrome nonlethal type Pterygium colli syndrome Pterygium universale Multiple pterygium syndrome, escobar variant Multiple pterygium syndrome, escobar variant; evmps Multiple pterygium syndrome, autosomal recessive |
Associated Genes (2) NCBI-RefSeq: CHRNG (Cholinergic receptor nicotinic gamma subunit) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: MYH3 (Myosin heavy chain 3) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Autosomal recessive multiple pterygium syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |