Global Variome shared LOVD

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Phenotype #0000319015 Individual ID 00428069 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details brith at term, weight 3kg (50th%ile), , OFC 34 cm (50th%ile); absent speech; delayed gross motor development; severe delayed fine motor milestones; severe intellectual disability; seizures; autism; mild hypotonia; MRI brain subtle interdigitation of inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; long palpebral fissures, small hands and feet; no congenital anomalies; ataxia Inheritance Isolated (sporadic) Age/Examination 3y9m (3 years, 9 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 2022-12-21 10:47:09 +01:00 (CET) Date last edited N/A

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