Global Variome shared LOVD

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Phenotype #0000315268 Individual ID 00424060 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no prenatal complications; birth 38w, C-section; no postnatal complications; developmental delay (HP:0012758)/mild intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250); single words, short sentences; hypotonia (HP:0001319), lower leg spasticity; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; premature puberty Inheritance Isolated (sporadic) Age/Examination 6y (6 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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