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Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
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Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia
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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities
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IRF2BPL is associated with neurological phenotypes
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect