Global Variome shared LOVD

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Phenotype #0000230414 Individual ID 00303337 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no abnormalities during pregnancy; birth 39w; profound intellectual disability; developmental delay, able to coo, whimper and laugh; motor delay, not able to sit; speech delay, no speech; epilepsy, epileptic encephalopathy, generalized epilepsy, about 1 seizure per month, 14y-deceased in status epilepticus; EEG abnormal; hypotonia; spasticity congenital, with progressive contractures of lower limbs and scoliosis; ataxia, not able to sit; hand stereotypies; MRI brain bilateral ventricular enlargement with cortical atrophy; no regression, but almost no progression; hyporeflexia but spasticity, myoclonias of mouth and eyelids; facial dysmorphisms; amelogenesis imperfecta suggestive of Kohlschutter Tonz syndrome, 3-4y-1st tooth, delayed eruption, yellow teeth; scoliosis; multiple pneumopathies; dry skin; no neoplasms Inheritance Isolated (sporadic) Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - 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 2020-06-10 17:04:23 +02:00 (CEST) Date last edited 2021-04-11 14:29:44 +02:00 (CEST)

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