Global Variome shared LOVD

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Phenotype #0000241834 Individual ID 00318130 Associated disease NCBRS Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Phenotype details clinical suspicion of Nicolaides-Baraitser syndrome or Coffin-Siris syndrome, developmental delay, IQ between 63 and 71, microcephaly, facial dysmorphia, peripheral pulmonary stenosis, PDA, PFO, muscle hypotension Age/Examination - Age/Diagnosis 10y Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-11-06 10:47:52 +01:00 (CET) Date last edited 2020-11-10 15:53:21 +01:00 (CET)

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