Global Variome shared LOVD

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Phenotype #0000238680 Individual ID 00314922 Associated disease ? Diagnosis/Initial - Diagnosis/Definite DDCH Phenotype details severe intellectual disability; onset congenital; 6w-normal hearing, 7m-hearing loss (7m 70 db, 3y 0 db); facial dysmorphism; motor development 6m-head control, 5y-sitting, 8y-autonomous wheelchair; simple sign language and scribbling; congenital strabismus, optic atrophy; 10m-dystonia; 8y-seizures; pyramidal signs, paraplegia, unexplained episodic fever, hyperactivity; failure to thrive, intrauterine growth delay; <3y-weight -3 SD, height -3 SD; >3y-weight -2 SD, height -2 SD; 2m-microcephaly (-3 SD), 2y-microcephaly (-2 SD); MRI brain 5.6y-periventricular hypomyelination; no atrophy Inheritance Familial, X-linked recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-20 19:02:47 +02:00 (CEST) Date last edited N/A

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