Global Variome shared LOVD

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Phenotype #0000357144 Individual ID 00472341 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; birth 36w; weight 93kg (SD+2.38), height 160cm (SD-0.39), OFC 59cm (SD+4.21); no gross motor delay; severe speech delay; moderate developmental delay; intellectual disability; no epilepsy, 2y-EEG pathological (then normal); autism traits (ASD); behavioral issues (hyperactivity); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; galactorrhea, dysmenorhea, hirsutism, hyperprolactinemia; no scoliosis; postanatal macrocephaly; normal ears; normal eyes; normal nose; normal mouth; wide hands, flat and large feet; hair loss, recurrent ear infections Inheritance Unknown Age/Examination 17y (17 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 2026-02-03 11:21:20 +01:00 (CET) Date last edited N/A

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