Global Variome shared LOVD

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

Phenotype #0000321966 Individual ID 00431372 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, broad nasal root, smooth philtrum, big mouth, thin upper lip; ichthyosis Age/Examination 8y (8 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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