Global Variome shared LOVD

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Phenotype #0000296382 Individual ID 00403687 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DENNED Phenotype details birth weight 2200g; 4y weight 29.5kg (SD+1), OFC 44.7cm (SD-6); microcephaly, sloping forehead, hypertelorism, upslanting palpebral fissures, large ears; hearing loss, abnormal auditory evoked potentials; no congenital heart defect; ocular cataracts, clinically blind; profound psychomotor developmental delay; 3y-no head control; not sitting; not walking; no speech; severe developmental delay/intellectual disability; dystonic tetraparesis; initially truncal hypotonia; hypertonia; axial hypotonia; no nystagmus;  ; difficult social contact; epileptic spasms during first year of life, myoclonic and tonic seizures; 27m-MRI-brain diffuse lobar hypoplasia, thin grey matter and simplified gyration, large ventricles, preserved U-fibres, delayed myelination, reduction of the bulk white matter, thin corpus callosum, hypoplastic cerebral peduncles Inheritance Familial, autosomal recessive Age/Examination 07y (7 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 2022-02-20 16:20:51 +01:00 (CET) Date last edited 2024-11-08 11:20:34 +01:00 (CET)

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