Global Variome shared LOVD

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Phenotype #0000233435 Individual ID 00308012 Associated disease ? Diagnosis/Initial severe syndromic intellectual disability Diagnosis/Definite NEDESBA Phenotype details see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, tremor, progressive scoliosis, epilepsy, cortical visual impairment, impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, abnormal dentition, hirsuitism; feeding difficulties, NG tube feeding, PEG tube feeds; no premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 0d 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 2020-08-25 13:30:59 +02:00 (CEST) Date last edited N/A

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