Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000041515 Individual ID 00054839 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Mild ID; Speech delay; Motor delay; concentration problems; sleep disturbances; oral hypotonia; hypotonia; hypermetropia (+3.75dpt); short hands and feet; low IgG class 2 and 3; MRI/CT: normal; mother used azathioprine, mesalazin and prednison during pregnancy. Delivery at 37+2 via C-section.; mild intellectual disability (HP:0001256); speech delay (HP:0000750) Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2015-11-27 14:28:57 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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