Global Variome shared LOVD

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Phenotype #0000356821 Individual ID 00472012 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details see paper; ..., brith 41+5; 6m-torticollis, developmental delay, now severe development delay; not walking, lost crawl; no speech; intellectual disability; social engagement very limited, autism spectrum diagnosis; mild-moderate hypotonia; seizures, changed from myoclonic to tonic/tonic clonic; EEG generalized epileptiform activity; MRI normal; displayed some unusual finger movements, repetitive scratching one arm, high pain tolerance; narrow face, prominent forehead, hypertelorism; mild tapering fingers, mild plagiocephaly; no cardiac anomalies; normal kidneys; poor head righting bilaterally, mild-moderate head lag, significant tightness in motion; 19m-eizures; MRI brain normal; wheelchair bound; G-tube fed; incontinence Inheritance Isolated (sporadic) Age/Examination 9y7m (9 years, 7 months) 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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