Global Variome shared LOVD

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Phenotype #0000231365 Individual ID 00305516 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 39w, weight 2610 (<-2 SD), OFC 35 (normal); height 118 (-2.5 SD) growth hormone treatment, weight 22.4 (normal), OFC 53 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; hypotonia; attention deficit hyperactivity disorder, aggressive behavior, impulsivity; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Unilateral testicular ectopia; Partial growth hormone deficit, treated with growth hormones; Hygroma coli, delayed bone age; no hearing abnormalities; Glaucoma, severe myopia; Hypertrichosis, delayed teeth eruption; High pitched voice; MRI-brain no holoprosencephaly Inheritance Isolated (sporadic) Age/Examination 8y (8 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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