Global Variome shared LOVD

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Phenotype #0000295653 Individual ID 00402902 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details premature membrane rupture; no dysmorphism; global developmental delay; normal weight; severe hypertonia, spastic quadriplegic cerebral palsy, prominent jaw jerk; MRI brain bilateral periventricular leukomalacia with reduced white matter volume, thinned corpus callosum and elements of delayed myelination; strabismus with accommodative/alternating esotropia; no hearing loss; hip dysplasia, subluxing hips; Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 1d 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 2022-02-14 10:40:27 +01:00 (CET) Date last edited N/A

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