Global Variome shared LOVD

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Phenotype #0000315262 Individual ID 00424054 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details maternal hemolysis, elevated liver enzymes, and low platelets; birth 37w, C-section; no postnatal complications; developmental delay (HP:0012758)/moderate intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); single words only, communication device and signs; hypotonia (HP:0001319); gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); no abnormal myelination (-HP:0012447); possible mild foreshortening of corpus callosum; astigmatism (HP:0000483); nystagmus (HP:0000639); strabismus (HP:0000486); mild myopia (HP:0000545); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; abnormality of the immune system (HP:0002715), recurrent ear infections Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2022-11-16 15:06:22 +01:00 (CET) Date last edited N/A

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