Global Variome shared LOVD

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Phenotype #0000230540 Individual ID 00303460 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDAHM Phenotype details moderate/severe intellectual disability; speech little expressive language, better receptive language (few single words); quiet behaviour; height 4y4m-106.9 cm(50th), 7y7m-122.1 cm (25th); OFC 5y4m 48.5 cm (0.4th); lower limb spasticity with brisk tendon reflexes; delayed gross motor development, walk-24m; MRI showed irregular ventricular margins and a thin corpus callosum; coarse facial features, prominent forehead, epicanthic folds, broad nasal bridge; tapering fingers, short 5th metacarpals; very short 3rd and 4th toes; mirror movements fingers; thick dry curly hair, low anterior hairline, iron deficiency anaemia, muscular ventricular septal defect, mongolian blue spot, long sighted Inheritance Familial, autosomal recessive Age/Examination - 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 2020-06-12 19:05:40 +02:00 (CEST) Date last edited N/A

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