Global Variome shared LOVD

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Phenotype #0000334403 Individual ID 00445149 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ...; EEG abnormal; no autism, no autistic features; global developmental delay, spastic diplegic cerebral palsy, epilepsy, ataxic gait, dysarthria, urinary incontinence, scoliosis, facial dysmorphism; anterior pituitary insufficiency (most likely of ischemic origin) with central hypothyroidism, growth hormone deficiency with short stature, secondary adrenocortical insufficiency, hypogonadotropic hypogonadism, delayed puberty Inheritance Unknown Age/Examination 22y (22 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 2024-01-05 10:36:32 +01:00 (CET) Date last edited N/A

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