Global Variome shared LOVD

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Phenotype #0000307039 Individual ID 00415241 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 39w, weight 2,670 g (-1.36 SD), length 46 cm (-1.76 SD), OFC 34 cm (0 SD); neonatal hypotonia, temperature instability, poor feeding; 5y6m-height 95 cm (-3 SD), weight 11.4 kg (-3 SD), OFC 44.5 cm (-3.8 SD); not sitting; not walking; no speech; normal behavior; no seizures; severe hypotonia; MRI brain 3y-diffuse cerebral atrophy with overly visible furrows and ventricular dilation due to atrophy, cerebellar atrophy, thin corpus callosum; no cardiac anomalies; horizontal nystagmus, cortical visual impairment; no recurrent infections Inheritance Familial, autosomal recessive Age/Examination 7y10m (7 years, 10 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 2022-08-10 16:14:56 +02:00 (CEST) Date last edited N/A

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