Phenotype #0000116595

Individual ID 00143817
Associated disease ?
Diagnosis/Initial fetal akinesia deformation sequence syndrome (FADS)
Diagnosis/Definite FADS
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Phenotype details see paper; lethal; ultra-sound fetal akinesia, joint contractions; facial dysmorphism, pterygia (1 fetus), distal muscle hypoplasia, hydrops, pulmonary hypoplasia; autopsy confirmed muscle atrophy and multiple joint contraction
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen