Phenotype #0000330521

Individual ID 00440609
Associated disease PVNH
Diagnosis/Initial periventricular heterotopia
Diagnosis/Definite PVNH8
Phenotype details developmental delays, speech delay, seizures; OFC 15y-5th centile, weight 20th centile, height 3th centile, spasticity, regressed in language abilities., MRI brain delay in myelination, cortical thinning, vermis atrophy
Inheritance Isolated (sporadic)
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-11-05 10:56:03 +01:00 (CET)
Date last edited 2023-11-05 11:03:52 +01:00 (CET)

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