Global Variome shared LOVD

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Phenotype #0000355622 Individual ID 00470726 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; hypotonia (severe); 12m-sit (with support); not walking; moderate intellectual disability; no autism spectrum disorder; behaviour anxiety; no epilepsy; EEG normal (after birth and 4m); Normal brain US (6m); hypotelorism, bluish sclera, mongoloid lid axis, thin lips, short neck; phalanges shortening (middle and distal), tapering fingers; skelatal dysplasia, disproportional short stature, slight platyspondyly, cone-shaped ventral ribs and distal ulna, radius shortening, humerus+femur scoliosis; normal kidney; fetal pads (feet), delayed tooth eruption, recurrent infections Age/Examination 18m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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