Global Variome shared LOVD

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Phenotype #0000318743 Individual ID 00427729 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, Desbuquois dysplasia Diagnosis/Definite MRXSRC;DBDQ2 Phenotype details see paper; ..., mild-moderate intellectual disability; Infantile hypotonia; recurrent otitis media, hearing aides; normal vision; Not described.; delayed speech; features on the autism spectrum and obsessiveness; 3m-onset seizures, mixed semiology focal, febrile and non febrile associated, and atonic (drop) attacks; MRI brain normal; height <0.4th centile; OFC 0.4-3rd centile; consistent with desbuquois dysplasia. almond shaped eyes, short upturned nose; constipation; short stature secondary to desbuquois dysplasia; sister has also cleft palate Inheritance Familial, X-linked Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-12 19:44:10 +01:00 (CET) Date last edited 2022-12-17 12:19:29 +01:00 (CET)

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