Global Variome shared LOVD

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Phenotype #0000308991 Individual ID 00417511 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight P50-P75, height P10-P25, OFC P97; no motor delay; speech delay/abnormalities; no hypotonia; no repetitive/stereotypical movements; no epilepsy; no intellectual disability; no learning difficulties; autism spectrum disorder; attention-deficit/hyperactivity disorder; no encopresis; sleeping difficulties; no ocular anomalies; congenital bilateral anteversion of femur; bilateral tight heel chord; knee pain; acne vulgaris, xerosis cutis, multiple melanocytic nevi, nail dystrophy Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2022-09-18 16:53:08 +02:00 (CEST) Date last edited N/A

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