Global Variome shared LOVD

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Phenotype #0000239766 Individual ID 00316021 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 3320 gr (0.02 SD), OFC 32 cm (-2.4 SD); 20y-OFC 54.5 cm (1.3 SD); severe intellectual disability; microcephaly at birth; hypertonia extremities; first words-28m, walks-3.5y.; anxiety; hand stereotypies, autistic traits, short attention span, agressive bursts; spasticity lower limbs, with increased deep tendon reflexes and extensor reflex, scissors gait; truncal ataxia, spastic-dyspraxic gait, dysmetria; intention tremor, dystonicmovements; progressive axonal and sensory neuropathy; MRI brain corpus callosum hypoplasia, bilateral Perisylvian polymicrogyria; 16y-hypertrophic cardiomyopathy with left moderate ventricular dysfunction, ejection fraction of 0.40; arched eyebrows, low-set thumbs, 2-3 toe syndactyly; conjunctival hyperemia, scoliosis, ocular movements: slow saccades, drooling, orofacial dyspraxia eeg bifrontal discharges without clinical seizures Inheritance Familial, autosomal recessive Age/Examination 20y (20 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 2020-11-01 12:39:14 +01:00 (CET) Date last edited 2020-11-01 13:06:11 +01:00 (CET)

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