Global Variome shared LOVD

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Phenotype #0000231377 Individual ID 00305528 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 37w, weight 2710 (normal); height 89 (normal), weight 13 (normal), OFC 51 (normal); intellectual disability; developmental delay; motor delay; speech delay; no epilepsy, febrile seizures, EEG-no epileptic activity; hypotonia; Self injurious behaviour, head banging; facial abnormalities; no dysphagia/feeding difficulties; Hearing aids; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet; MRI-brain no holoprosencephaly, some aspecific white matter abnormalities Inheritance Isolated (sporadic) Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-28 10:52:31 +02:00 (CEST) Date last edited N/A

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