| Disease Aliases (11) | Autosomal recessive lethal multiple pterygium syndrome Chrna1-related multiple pterygium syndrome, lethal type Chrnd-related multiple pterygium syndrome, lethal type Lmps Lethal multiple pterygium syndrome Multiple pterygium syndrome lethal type Pterygium syndrome, multiple, lethal type Pterygium multiple syndrome, lethal type Pterygium syndrome multiple lethal type Multiple pterygium syndrome, lethal type Multiple pterygium syndrome, lethal type; lmps |
Associated Genes (6) NCBI-RefSeq: CHRND (Cholinergic receptor nicotinic delta subunit) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CHRNA1 (Cholinergic receptor nicotinic alpha 1 subunit) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: NEB (Nebulin) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RYR1 (Ryanodine receptor 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RAPSN (Receptor associated protein of the synapse) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CHRNG (Cholinergic receptor nicotinic gamma subunit) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Lethal multiple pterygium syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |