Global Variome shared LOVD

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Phenotype #0000321971 Individual ID 00431377 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; anxiety, hyperactivity; no neurological features; long face, exophoria, prognathism, everted lower lip, anteverted floppy ears; kyphoscoliosis, pes planus, long and slender fingers and toes, late puberty; MRI brain posterior white matter hyperintensity Age/Examination 18y (18 years) 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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