Global Variome shared LOVD

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Phenotype #0000332701 Individual ID 00443359 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details OFC 43cm (below the 1st); severe global developmental delay/intellectual disability; delayed speech; spasticity; cerebellar ataxia; abnormal gait; tremor; hand tremor (at rest, posture, movement); neonatal onset GTC seizures ; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no lateral upslanting palpebral fissures; Inheritance Familial, autosomal recessive Age/Examination 1y (1 year) 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 2023-11-25 19:15:23 +01:00 (CET) Date last edited N/A

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