Global Variome shared LOVD

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Phenotype #0000233434 Individual ID 00308011 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; premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy with relative sparing of the basal ganglia, cortical atrophy preceded the cerebellar atrophy, no diffusion restriction has been obvious on sequential scans, no suggestion of iron deposition in the brainstem/basal ganglia, spastic quadraparesis with minimal spontaneous movement of limbs and hyperreflexia Inheritance Familial, autosomal recessive Age/Examination 14y (14 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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