Global Variome shared LOVD

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Phenotype #0000221942 Individual ID 00288205 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details decreased body weight, microcephaly, failure to thrive, growth delay, high palate, coarse facial features, low anterior hairline, visual impairment, nystagmus, strabismus, hypotelorism, abnormal electroretinogram, amblyopia, thick eyebrow, synophrys, tapered finger, hypotonia, joint hypermobility, frequent falls, poor head control, ulnar deviation of the hand, malabsorption, hydronephrosis, pelvocaliectasis, enuresis, developmental delay, delayed speech, language development, autistic features, absent speech, seizures, dystonia, spasticity, intellectual disability, gait disturbance, encephalopathy, ataxia, status epilepticus, broad-based gait, gait imbalance, unsteady gait, hyperreflexia, poor fine motor coordination, EEG with central focal spikes, delayed myelination, abnormality of movement, feeding difficulties, chronic constipation Inheritance Isolated (sporadic) Age/Examination 11y (11 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 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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