Global Variome shared LOVD

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

Phenotype #0000321975 Individual ID 00431381 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details birth weight -1, length -0.5, OFC +0.9; weight -2, height -2, OFC -4.6; motor delay (HP:0001270); not walking; intellectual disability intellectual disability IQ 35; language delay (HP:0000750), no speech; outburst of anger, autistic traits; tonic seizures; prominent forehead, depressed nasal root, broad nose tip, prominent nares, short philtrum, tented mouth, low set ears; MRI brain thin corpus callosum mild frontoparietal cortical atrophy, wide interhemispheric fissure, bilateral mild deep sylvian fissure, periventricular and occipital white matter T2 hyperintensitie Age/Examination 6y (6 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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