Arthrogryposis multiplex congenita with pulmonary hypoplasia

Arthrogryposis multiplex congenita - pulmonary hypoplasia

Arthrogryposis multiplex congenita pulmonary hypoplasia

Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome

Fads

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Fetal akinesia sequence

Lethal pena-shokeir 1 syndrome

Pena-shokeir syndrome, type i

Pena-shokeir syndrome type 1

Pena-shokeir syndrome, type 1

Fetal akinesia deformation sequence; fads

Foetal akinesia deformation sequence syndrome

Foetal akinesia sequence

NCBI-RefSeq:  MUSK   (Muscle associated receptor tyrosine kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  RAPSN   (Receptor associated protein of the synapse)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  NUP88   (Nucleoporin 88)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  MYOD1   (Myogenic differentiation 1)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  DOK7   (Docking protein 7)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  SLC18A3   (Solute carrier family 18 member A3)

External Links:  gnomAD browser   Ensembl   GeneCards