Search results

• Phenothype-Genotype relationships in 3q29-microduplication syndrome

  3q29

  Call for Collaboration

• Search for patients with patients with recessive variants in SNX13 gene

  SNX13

  Call for Collaboration

• Molecular and phenotypic delineation of the MEF2C-related syndrome

  MEF2C

  Call for Collaboration

• Search for patients with de novo variants in DCAF15

  DCAF15

  Call for Collaboration

• Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants

  YWHAE   

  Call for Collaboration

• Search for patients with severe neonatal presentation due to mutations of the ATL1 gene

  ALT1

  Call for Collaboration

• Osteopathia striata with cranial sclerosis: a further insight

  AMER1

  Call for Collaboration

• Rare Disease Diagnosis series – Genetic Origin

  Educational Resource

• CAMK2A-related neurodevelopmental disorder – description of the clinical and neurological phenotype

  CAMK2A

  Call for Collaboration

• Implication of missense variants in the NSD1 gene in Sotos-like phenotype

  NSD1

  Call for Collaboration