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
Created by	Johan den Dunnen
Date created	2026-01-05 12:55:15 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD