'CRYAB-related infantile hypertonic myofibrillar myopathy' added to DDG2P. Biallelic LoF variants in CRYAB cause a disorder characterised by rapid development of profound muscle stiffness and respiratory insufficiency soon after birth. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

Bi-allelic variants in the secretory pathway gene SEC16A are associated with a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...

Expanding Clinical and Variant Spectrum of CBX1-Related Syndrome: Report of Three Novel Cases #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

A Homozygous ALCAM–CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

'GPHN-related molybdenum cofactor deficiency with epileptic encephalopathy and cranial MRI anomalies' added to DDG2P. Biallelic LoF variants in GPHN cause a disorder characterised by hypotonia, feeding difficulties and intractable seizures. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I #RareDisease #Genetics #newphenotype #morbidgene www.cell.com/ajhg/fulltex...

Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability #RareDisease #Genetics #NewPhenotype #morbidgene onlinelibrary.wiley.com/doi/10.1002/...

'EHMT2-related Kleefstra syndrome' added to DDG2P. Monoallelic dominant negative variants in EHMT2 cause a disorder characterised by global developmental delay, facial dysmorphism, cardiovascular anomalies, and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

'ZRSR2-related oral-facial-digital syndrome' added to DDG2P. Monoallelic X hemizygous LoF variants in ZRSR2 cause a disorder characterised by mild global developmental delay, and oral, facial, digital, and brain anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies #RareDisease #Genetics #NewPhenotype #morbidgene www.cell.com/ajhg/abstrac...

'MRPL39-related paediatric-onset mitochondrial disorder' added to DDG2P. Biallelic LoF variants in MRPL39 cause a disorder characterised by developmental delay, hypotonia, hypertrophic cardiomyopathy, feeding difficulty and faltering growth. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

'CDK20-related ciliopathy with midline brain and facial anomalies' added to DDG2P. Biallelic LoF variants in CDK20 cause a disorder characterised by severe ventriculomegaly or hydrocephalus, and midline brain and facial anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...