Global Variome shared LOVD

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Phenotype #0000318744 Individual ID 00427730 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., moderate-severe intellectual disability; Infantile hypotonia; normal hearing; severe myopia; mild ataxia, VII cranial nerve palsy; delayed speech, very rudimentary; impulsiveness, anger outbursts; no seizures; EEG normal; MRI brain normal; height 10th centile; OFC 12th centile; long eyelashes, synophrys, thick eyebrows, low set ears, short but normal fifth digit phalanges in hands and feet, second toe longer than hallux left side; no gastrointestinal symptoms; cranial nerve VII palsy Inheritance Familial, X-linked Age/Examination 5y6m (5 years, 6 months) 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 2022-12-12 19:44:10 +01:00 (CET) Date last edited N/A

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