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G2P @gene2phenotype.bsky.social · 24/09/2026

'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

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G2P @gene2phenotype.bsky.social · 17/09/2026

'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

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G2P @gene2phenotype.bsky.social · 10/09/2026

'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

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G2P @gene2phenotype.bsky.social · 03/09/2026

'MINPP1-related pontocerebellar hypoplasia' added to DDG2P. Biallelic LoF variants in MINPP1 cause a disorder characterised by severe global developmental delay with a distinct type of pontocerebellar hypoplasia, hypotonia, and early-onset epilepsy. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 27/08/2026

'ASCC1-related prenatal spinal muscular atrophy and congenital bone fractures' added to DDG2P. Biallelic LoF variants in ASCC1 cause a disorder characterised by severe, diffuse hypotonia, congenital contractures, and pulmonary hypoplasia. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 20/08/2026

'PTPN23-related neurodevelopmental disorder with or without structural brain anomalies, optic atrophy, seizures and spasticity' added to DDG2P. Biallelic LoF variants in PTPN23 cause a disorder characterised by NDD and structural brain abnormalities. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 13/08/2026

'HTRA2-related early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria' added to DDG2P. Biallelic LoF variants in HTRA2 cause a disorder characterised by DD, hypotonia, abnormal movements, and respiratory insufficiency. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 06/08/2026

MAP3K20-related split-foot malformation with mesoaxial polydactyly' added to DDG2P. Biallelic variants in MAP3K20 cause a disorder characterised by split-foot defect and nail abnormalities of the hands. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 30/07/2026

'MIR140-related spondyloepiphyseal dysplasia, Nishimura type' added to DDG2P. Monoallelic GoF variants in MIR140 cause a disorder characterised by disproportionate short stature, short limbs, small hands and feet, and midface hypoplasia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 23/07/2026

'WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities', caused by biallelic LoF variants in WBP4, added to DDG2P. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 16/07/2026

'RNU4-2-related neurodevelopmental disorder with distinct white matter changes' added to DDG2P. Biallelic LoF variants in RNU4-2 cause a disorder characterised by GDD/ID, delayed language development and specific white matter changes. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 09/07/2026

'RNU4-2-related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome)' added to DDG2P. Monoallelic variants in RNU4-2 cause a disorder characterised by severe DD/ID, microcephaly, short stature and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 02/07/2026

'ACTL6A-related BAFopathy (developmental disorder with or without cardiac and limb anomalies)' added to DDG2P. Monoallelic LoF variants in ACTL6A cause a disorder characterised by developmental delay, and limb and cardiac anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 25/06/2026

'MYH11-related megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)' added to DDG2P. Biallelic LoF variants in MYH11 cause a disorder characterised by functional obstruction in the urinary and gastrointestinal tract. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 18/06/2026

'MYL1-related myopathy, congenital, with fast-twitch (type II) fiber atrophy', added to DDG2P. Biallelic LoF variants in MYL1 cause a disorder characterised by severe hypotonia, respiratory insufficiency, and skeletal anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 11/06/2026

'KCNB2-related neurodevelopmental disorder', added to DDG2P. Monoallelic variants in KCNB2 cause a disorder characterised by global developmental delay, intellectual disability, facial dysmorphisms, and hand and/or eye anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 04/06/2026

'KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG)', caused by monoallelic variants in KCNK4, added to DDG2P. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 28/05/2026

'GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss' added to DDG2P. Biallelic LoF variants in GTF3C5 cause a disorder characterised by DD/ID, growth restriction, and skeletal anomalies. See www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 22/05/2026

It has been great to attend the Congreso Español de Medicina Genómica! Thank you for the insightful discussion about #genomics and precision medicine for the Spanish-speaking community #diversity #healthequity See Clinical genomic resources at EMBL-EBI congresogenomica.com/posters/

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G2P @gene2phenotype.bsky.social · 22/05/2026

¡Ha sido fantastico asistir al tercer Congreso Español de Medicina Genómica! Gracias a los organizadores por los interesantes debates sobre #genómica y medicina de precisión para la comunidad hispanohablante. #diversidad #equidadensalud congresogenomica.com/posters/

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G2P @gene2phenotype.bsky.social · 21/05/2026

'MN1-related neurodevelopmental disorder with or without cleft palate' added to DDG2P. Monoallelic LoF variants in MN1 cause a disorder characterised by intellectual disability and craniofacial anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 14/05/2026

'ZBTB7A-related developmental disorder with macrocephaly, obstructive sleep apnea, and persistent fetal hemoglobin' added to DDG2P. Monoallelic LoF variants in ZBTB7A cause a disorder characterised by macrocephaly, ID, sleep apnea, and elevated HbF. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 07/05/2026

'ATG12-related neurodevelopmental disorder with cerebellar vermis hypoplasia'' added to DDG2P. Biallelic LoF variants in ATG12 cause a disorder characterised DD, intellectual disability, ataxia, hypotonia, seizures and cerebellar vermis hypoplasia. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 30/04/2026

'PSKH1-related syndromic hepatorenal ciliopathy' added to DDG2P. Biallelic variants in PSKH1 cause a disorder characterised by hepatic cholestasis, renal failure, cholestatic jaundice and abdominal distension. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 27/04/2026

Ensembl variantion is going to be at Genomics of Rare Disease 2026! #GRD26 Interested in knowing more about how to use Ensembl Variant Effect Predictor (VEP) to accelerate variant annotation, filtering and prioritisation? Come and say Hi 👋 at poster 017.

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G2P @gene2phenotype.bsky.social · 27/04/2026

G2P is going to be at Genomics of Rare Disease 2026! #GRD26 Interested in knowing more about the molecular and clinical curation of gene-disease associations? Come and say Hi 👋 at poster 008.

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G2P @gene2phenotype.bsky.social · 23/04/2026

'EIF3K-related syndromic developmental disorder with microcephaly, ear and digital anomalies' added to DDG2P. Biallelic variants in EIF3K cause a disorder characterised by microcephaly, short stature, abnormal facial features, and congenital anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 21/04/2026

G2P is going to be at ISCB UK in Cambridge! Come say Hi 👋 at poster A-08. @iscb.bsky.social

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G2P @gene2phenotype.bsky.social · 16/04/2026

'KDM2A-related neurodevelopmental disorder with growth restriction' added to DDG2P. Monoallelic variants in KDM2A cause a disorder characterised by intellectual disability, growth issues, feeding difficulties, and recurrent facial features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 09/04/2026

'RNF213-related moyamoya disease' added to DDG2P. Monoallelic variants in RNF213 cause a disorder characterised by early onset transient ischemic attacks, cerebral infarction, and rupture of the collateral vessels that can cause intracranial hemorrhage. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 02/04/2026

'SNUPN-related muscular dystrophy with or without multi-system involvement' added to DDG2P. Biallelic LoF variants in SNUPN cause a disorder characterised by proximal weakness in childhood, restrictive respiratory dysfunction and prominent contractures. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 26/03/2026

'PRMT9-related syndromic neurodevelopmental disorder with or without seizures and digital anomalies' added to DDG2P. Biallelic LoF variants in PRMT9 cause a disorder characterised by GDD, intellectual disability, autism, epilepsy, and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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Reposted by G2P

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 26/03/2026

N=1 treatment information is now displayed on a new N=1 tab. These are treatments for highly personalized, single-patient clinical trials or custom-designed therapies, curated by the @n1collaborative.bsky.social and provided by N1C Gene Registry #TreatmentForAll

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G2P @gene2phenotype.bsky.social · 19/03/2026

'NRDC-related neurodevelopmental disorder with microcephaly and brain abnormalities' added to DDG2P. Biallelic LoF variants in NRDC cause a disorder characterised by severe DD/ID, microcephaly, seizures, eye/visual abnormalities, and joint contractures. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 12/03/2026

'FSD1L-related neurodevelopmental disorder with hydrocephalus and corpus callosum anomalies' added to DDG2P. Biallelic LoF variants in FSD1L cause a disorder characterised by severe brain malformations, severe ID, spastic tetraparesis, and epilepsy. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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G2P @gene2phenotype.bsky.social · 05/03/2026

'JKAMP-related neurodevelopmental disorder with seizures, hypotonia, and microcephaly' added to DDG2P. Biallelic LoF variants in JKAMP cause a disorder characterised by ID, DD, seizures, hypotonia, microcephaly, and dysmorphic features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 26/02/2026

'RAB5C-related neurodevelopmental disorder ' added to DDG2P. Monoallelic DN variants in UBR5 cause a disorder characterised by developmental delay, autism, macrocephaly, facial dispmorphism, and brain imaging abnormalities. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 19/02/2026

'UBR5-related neurodevelopmental disorder' added to DDG2P. Monoallelic LoF variants in UBR5 cause a disorder characterised by developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 12/02/2026

'EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism' added to DDG2P. Monoallelic LoF variants in EIF3B cause a disorder characterised by mild DD, cardiac defects, and craniofacial dysmorphisms. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 05/02/2026

'MDGA2-related developmental and epileptic encephalopathy with abnormal cranial MRI' added to DDG2P. Biallelic LoF variants in MDGA2 cause a disorder characterised by infantile hypotonia, severe NDD, seizures, and dysmorphic features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

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G2P @gene2phenotype.bsky.social · 29/01/2026

'TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus' added to DDG2P. Monoallelic LoF variants in TRIM71 cause a disorder characterised by ventriculomegaly, hydrocephalus, DD, dysmorphic features, and corpus callosum dysgenesis. See www.ebi.ac.uk/gene2phenoty...

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Reposted by G2P

Caroline Wright @carolinefwright.bsky.social · 28/01/2026

Some important new DECIPHER features released by @deciphergenomics.bsky.social today, including a new management/therapies tab, and links to single gene disorder guides from @uniquecharity.bsky.social

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G2P @gene2phenotype.bsky.social · 22/01/2026

'ABCC9-related intellectual disability, myopathy and white matter abnormalities' added to DDG2P. Biallelic LoF variants in ABCC9 cause a disorder characterised by NDD/ID, microcephaly, corpus callosum/white matter abnormalities, seizures and spasticity. See www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 15/01/2026

'UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder' added to DDG2P. Biallelic LoF variants in UNC13A cause a disorder characterised by severe global developmental delay/intellectual disability, early-onset seizures, and hypotonia. See www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 15/01/2026

'UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements' added to DDG2P. Monoallelic GoF variants in UNC13A cause a disorder characterised by global developmental delay, ID, seizures, tremor and dyskinetic movements. See www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 18/12/2025

'GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy' added to DDG2P. Biallelic LoF variants in GTF3C3 cause a disorder characterised by ID, microcephaly, motor impairment, seizures and dysmorphic facial features. See www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 11/12/2025

'EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism' added to DDG2P. Monoallelic LoF variants in EIF3A cause a disorder characterised by mild developmental delay and cardiac, craniofacial and behavioural abnormalities. See www.ebi.ac.uk/gene2phenoty...

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G2P @gene2phenotype.bsky.social · 04/12/2025

'RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum' added to DDG2P. Biallelic RPS6KC1 LoF variants cause a disorder characterised by spastic paraplegia, neurodevelopmental delay, and intellectual disability. See www.ebi.ac.uk/gene2phenoty...

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Reposted by G2P

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 03/12/2025

I'm excited to be speaking at #FOGLondon this January. Have a question you'd like me to answer during my session? Drop it in the comments or message me, I'd love to hear your thoughts. Further information: hubs.la/Q03JMvwd0 #FOGLondon #genomics #biodata

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G2P @gene2phenotype.bsky.social · 27/11/2025

Compiling evidence of gene-disease associations from the scientific literature for rare disease diagnosis and research is essential but time consuming. Publications identified using a new machine learning approach can now be searched and browsed in G2P. www.ebi.ac.uk/about/news/u...

ebi.ac.uk

Machine learning method identifies evidence for developmental disorders in the G2P database

An extensive collection of peer-reviewed publications describing developmental disorders has been identified and integrated into G2P to help clinicians and researchers better understand the genetic ba...

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