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1 records shown · first 60Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
PMID 33179433 | DOI 10.1002/ajmg.a.61957 · American journal of medical genetics. Part A · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.6905C>A | “The causal MYO18B variants were a founder NM_032608.5:c.6905C>A; p.(Ser2302*) variant in the Saudi patients (P1-P6) and a novel MYO18B homozygous variant (c.6660_6670del;p.[Arg2220Serfs*74]) in the American Caucasian patient (P7).” | 0.95 | hgvs_regex_v1 |
| gene | MYO18B | “Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature.” | 0.98 | hgnc_dict_v1 |
| phenotype | arthrogryposis | “All patients had myopathy of varying severity that followed a slowly progressive or non-progressive course, affecting primarily the proximal musculature of the lower limb although hand involvement with distal arthrogryposis and abnormal interphalangeal creases was also observed.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.” | 0.93 | phenotype_alias_lexicon_v2 |