Global Variome shared LOVD

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Phenotype #0000347588 Individual ID 00459510 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC <3rd; no short stature; severe-profound intellectual disability; early infancy developmental delay, minimal developmental progress, non-ambulatory, support to sit, 1y-rolled back but lost the skill, no speech; no autistic features; epilepsy, epileptic encephalopathy, 4m-onset (intractable tonic and complex partial seizures); no movement disorder; no genital anomalies; no cardiac anomalies; brachycephaly, mild synophrys, long palpebral fissures, deep-set eyes, patchy hypopigmentation on abdomen; profound hypotonia; reduced deep tendon reflexes; 4y-several-month episode choreoathetosis in context of illness which subsequently resolved; cortical blindness Inheritance Familial Age/Examination 6.33y 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 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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