| DOI | Case ID | Clinician | Title | Created |
|---|---|---|---|---|
| View paper | 9976 | Dr. Sébastien KÜRY (sekury) | A case of PSMC5-associated neurodevelopmental proteasomopathy | 3.1.2024 |
| View paper | 10654 | Ms. Julia Suh (dsuh) | Case report of an adult woman with Phelan-McDermid-Syndrome | 20.2.2024 |
| View paper | 13037 | Dr. Sofia Douzgou Houge (SofiaDouzgou) | The distinctive gestalt of the CDK13-related developmental disorder is grossly independent from ethnical variance | 9.12.2024 |
| View paper | 11222 | Dr. Alessandro Mauro SPINELLI (amspinelli) | An adult case of Koolen-de Vries syndrome - Is post-lingual sensorineural hearing loss less infrequent than commonly assumed? | 31.3.2024 |
| View paper | 11192 | Dr. Miroslaw Kwasniewski (miroslawkwasniewski) | Broad phenotypic spectrum of SYNGAP1-related disorder: a case with epilepsy, severe developmental delay, and atypical sensory features | 28.3.2024 |
| View paper | 11195 | Dr. Miroslaw Kwasniewski (miroslawkwasniewski) | Atypical presentation of Glass syndrome in a child with epilepsy, autism, and unusual bleeding and thermoregulation issues | 28.3.2024 |
| View paper | 11189 | Dr. Karolina Chwialkowska (karolinachwialkowska) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 in a child with cerebellar ataxia and autism: evidence of phenotypic expansion | 28.3.2024 |
| View paper | 11193 | Dr. Karolina Chwialkowska (karolinachwialkowska) | Hyperphosphatasia with mental retardation syndrome type 1 in a child with seizures and craniofacial anomalies | 28.3.2024 |
| View paper | 11194 | Dr. Karolina Chwialkowska (karolinachwialkowska) | Baraitser-Winter syndrome type 1 in an infant with craniofacial dysmorphism, facial asymmetry, and sensorineural hearing loss | 28.3.2024 |
| View paper | 11284 | Dr. Nadja Ehmke (nadja) | Severe congenital hearing loss due to a homozygous SLC26A4 splice variant | 5.4.2024 |
| View paper | 15432 | Ms. Beatriz de Carvalho Nunes (beacnunes) | ZMYND11-related syndromic intellectual disability diagnosis in a case with classic Cornelia de Lange syndrome phenotype | 5.10.2025 |
| View paper | 9953 | Ms. Beatriz de Carvalho Nunes (beacnunes) | Deep intronic NIPBL splice site variant in a patient with a mild presentation of classic Cornelia de Lange syndrome phenotype | 3.1.2024 |
| View paper | 9932 | Ms. Beatriz de Carvalho Nunes (beacnunes) | Cornelia de Lange Syndrome in a woman with mild phenotype and advanced age | 2.1.2024 |
| View paper | 11223 | Dr. Alessandro Mauro SPINELLI (amspinelli) | Clinically-mild CHD8-related neurodevelopmental disorder with overgrowth in adulthood | 31.3.2024 |
| View paper | 9958 | Ms. Beatriz de Carvalho Nunes (beacnunes) | Classic Cornelia de Lange syndrome phenotype in a patient with a mosaic NIPBL variant absent in blood | 3.1.2024 |
| View paper | 11494 | Dr. Agusti Rodriguez-Palmero (arodriguezpalmero) | Beyond Asymptomatic Carriers: Clinical Burden of a KDM5C Female Patient | 13.5.2024 |
| View paper | 9003 | Dr. Franziska Schnabel (schnabelf) | ZTTK Syndrome in Early Childhood: A Case Report | 2.5.2023 |
| View paper | 13098 | Dr. Himanshu Goel (Himanshugoel) | Multiexon SOX5 Deletion in a Male with Lamb-Shaffer Syndrome | 18.12.2024 |
| View paper | 12249 | Dr. Himanshu Goel (Himanshugoel) | Expanding the Phenotypic Spectrum of BRSK2-Related Neurodevelopmental Disorder: A Case with Bilateral Ptosis and Dysmorphic Features | 26.8.2024 |
| View paper | 14389 | Dr. Himanshu Goel (Himanshugoel) | Myhre syndrome due to a recurrent SMAD4 p.Arg496Cys variant in a 17-year-old boy: clinical and neuroimaging findings | 18.5.2025 |
| View paper | 11137 | Mr. Gaber Bergant (gbergant) | Atypical Wolf–Hirschhorn Syndrome in a Boy with a Novel NSD2 Loss-of-Function Variant | 26.3.2024 |
| View paper | 11140 | Mr. Gaber Bergant (gbergant) | Parietal foramina 2 in a 5-year-old girl with persistent open fontanels and dysmorphic features | 26.3.2024 |
| View paper | 15390 | Ms. Beatriz de Carvalho Nunes (beacnunes) | Identification of a pathogenic variant in KAT6B in a patient with genitopatellar syndrome: A case report | 30.9.2025 |
| View paper | 15389 | Ms. Beatriz de Carvalho Nunes (beacnunes) | Wiedemann-Steiner syndrome diagnosis in a patient with clinical suspicion of Rubinstein-Taybi syndrome | 30.9.2025 |
| View paper | 11393 | Dr. Nergis Güzel (neguezel) | Case report of a girl with PTEN hamartoma tumor syndrome | 24.4.2024 |
| View paper | 11458 | Dr. Eric Olinger (eolinger) | Trio exome reveals PSMC5-associated neurodevelopmental proteasomopathy in an 18-year-old male with mild ID, microcephaly, and facial dysmorphism | 8.5.2024 |
| View paper | 9819 | Dr. Luisa Averdunk (Luisa) | SLC6A8-associated creatine transporter deficiency in a female individual with normal urine and plasma creatine metabolite levels, but a 50% reduction in the cerebral creatine peak on quantitative reanalysis of MR spectroscopy | 17.11.2023 |
| View paper | 9820 | Dr. Luisa Averdunk (Luisa) | A case of RAI-related Smith-Magenis sydrome with obesity and small-stepped and robotic gait | 17.11.2023 |
| View paper | 9822 | Dr. Luisa Averdunk (Luisa) | A case of SMC3-related Cornelia de Lange syndrome | 17.11.2023 |
| View paper | 13108 | Prof. Katrin Õunap (KatrinOunap) | A case with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities and a missense variant in ABCA2 | 18.12.2024 |
| View paper | 14032 | Dr. Clara Velmans (cvelmans) | Verheij Syndrome with normal intelligence after a 10-year diagnostic odyssey | 17.4.2025 |
| View paper | 14021 | Dr. Clara Velmans (cvelmans) | GestaltMatcher facial analysis helped confirm the diagnosis of Chung-Jansen Syndrome | 16.4.2025 |
| View paper | 11041 | Prof. Andreas Tzschach (tzschach) | Novel ZBTB20 variant in a patient with Primrose syndrome | 20.3.2024 |
| View paper | 9974 | Dr. Sébastien KÜRY (sekury) | A case of PSMC5-associated neurodevelopmental proteasomopathy | 3.1.2024 |
| View paper | 10886 | Dr. Sarah Wiethoff (SarahWiethoff) | Case report of x-linked spinal and bulbar muscular atrophy with pronounced facial muscle atrophy and fasciculations | 8.3.2024 |
| View paper | 7155 | Dr. Ibrahim Abdelrazek (Ibrahim) | Novel De Novo KMT2A Missense Variant in a Boy with Wiedemann-Steiner Syndrome | 17.6.2022 |
| View paper | 7104 | Dr. Ibrahim Abdelrazek (Ibrahim) | Novel Homozygous SCARF2 Nonsense Variant in Two Siblings with Van den Ende-Gupta Syndrome | 13.5.2022 |
| View paper | 11173 | Dr. Mert Karakaya (mertk) | Expanding the Clinical Presentation of Wisconsin Syndrome: A 3q24q25.3 Deletion Including ZIC1 and ZIC4 | 28.3.2024 |
| View paper | 15254 | Dr. Ibrahim Abdelrazek (Ibrahim) | A homozygous synonymous NOP58 variant associated with a novel ribosomopathy | 18.9.2025 |
| View paper | 8277 | Dr. Amaia Lasa-Aranzasti (lasa.aranzasti) | CTNNB1 Syndrome with Spinal Lipoma: A Case Report Highlighting Medullary Involvement | 21.11.2022 |
| View paper | 9315 | Dr. Theresa Brunet (Theresa.Brunet) | Molecular autopsy leading to the diagnosis of TBCK-associated disorder | 16.6.2023 |
| View paper | 11244 | Dr. Christopher CY Mak (cmakl) | Novel de novo JAG1 frameshift mutation in Alagille syndrome with early liver transplant requirement | 2.4.2024 |
| View paper | 9281 | Dr. Miriam Elbracht (mielbracht) | Case report of a girl with NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA (ZMIZ1 related) | 1.6.2023 |
| View paper | 9903 | Dr. Luisa Averdunk (Luisa) | From Face to Function: SEC24C Deficiency Mimics GPI-Anchor Biosynthesis Disorder | 19.12.2023 |
| View paper | 11221 | Dr. Yuri Zarate (yzarate) | SATB2-associated syndrome and a splice-site variant | 31.3.2024 |
| View paper | 9660 | Dr. Antonio Martinez Monseny (afmartinez) | Clinical Variability in MECP2 Duplication Syndrome: Highlighting Sialorrhea as the Daily Challenge | 8.9.2023 |
| View paper | 14383 | Dr. Hanna Havriushenko (Hanna_Havriushenko) | A familial case of KMT5B-associated autosomal dominant neurodevelopmental disorder | 18.5.2025 |
| View paper | 10693 | Ms. Hellen Lesmann (Hellenlesmann) | Atypical presentation of a case with Noonan syndrome with multiple lentigines | 22.2.2024 |
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