Heterozygous pathogenic variants in the FBRSL1 gene cause a multisystem disorder. Patients show global developmental delay, autistic behavior, respiratory distress and feeding difficulties in the neonatal period, craniofacial malformations, no active speech, postnatal microcephaly, growth retardation, contractures and a variable degree of inner organ malformations like heart defects (ASD/VSD/PDA), asplenia, and cleft palate. Two patients exhibited distinctive skin creases during their first year of life, which later disappeared.
FBRSL1