Global Variome shared LOVD

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Phenotype #0000341642 Individual ID 00452996 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details birth 35w, vaginal delivery (dizygotic twin), weight 2.04 kg; moderate intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); hand joint deformity, musculoskeletal abnormalities (HP:0033127); no seizure (-HP:0001250); facial dysmorphism (HP:0001999); MRI brain mildly dilated vestibular ducts (HP:0410263); congenital unilateral right hydronephrosis with vesicoureteral reflux (HP:0000119); no microcephaly (-HP:0000252); mixed type hearing impairment (HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); no autistic behavior (-HP:0000729); type 1 diabetes, chronic acral warts Inheritance Isolated (sporadic) Age/Examination 15y (15 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 2024-08-10 16:01:26 +02:00 (CEST) Date last edited N/A

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