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UnknownLoss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989 | biostudies-literature
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | biostudies-literature
UnknownDe novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Not available
S-EPMC11533975 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708 | biostudies-literature
UnknownVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857 | biostudies-literature
UnknownSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Not available
S-EPMC8008487 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Not available
S-EPMC5307971 | biostudies-literature
UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Not available
S-EPMC6408318 | biostudies-literature
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