has material basis in germline mutation in disease has feature MYO18B Klippel-Feil syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/klippel_feil_anomaly_myopathy_facial_dysmorphism_syndrome https://www.malacards.org/card/klippel_feil_syndrome_4 https://www.malacards.org/card/klippel_feil_syndrome_4_autosomal_recessive_with_nemaline_myopathy_and_facial_dysmorphism MEDGEN:894399 OMIM:616549 Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome GARD:0017778 UMLS:C4225285 DOID:0080592 Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism MONDO:0014689 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism KFS4 congenital myopathy