Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000321973 Individual ID 00431379 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details birth weight -1, length -0.8, OFC -1.7; weight -3, height -3, OFC -3; motor delay (HP:0001270); not walking; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, aggressivity; no neurological features; coarse facies, synophrys, marked epicanthus, flat nasal tip, long smooth philtrum big tented mouth, elongated face; MRI brain periventricular and occipital white matter T2 hyperintensities, myelination delay Age/Examination 4y6m (4 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Fernanda Soledad Jalil Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-14 11:22:32 +02:00 (CEST) Date last edited N/A

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