Search Results for: microcephaly
The Undiagnosed Diseases Network at the ASHG 2020 Virtual Meeting
…loss of function of PUS7 is associated with postnatal microcephaly, aggressive self-injurious behavior, speech delay, and global developmental delay (S. Han) 3191 – HIP1R may be associated with a recessive, progressive, neurologic disorder (J….
The Undiagnosed Diseases Network at the ASHG 2021 Virtual Meeting
…and are associated with neurodevelopmental delay, microcephaly, and hyperuricemia (K. Garcia) 3428 – Novel PRUNE1 c.933G>A (p.Thr311=) synonymous splice variant induces exon 7 skipping and leads to an atypical presentation…
Model Organisms
…will be continuously updating and upgrading this tool for the community. Publications Research Articles Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental…