Phenotype #0000330534

Individual ID 00440622
Associated disease PVNH
Diagnosis/Initial periventricular nodular heterotopia
Diagnosis/Definite PVNH8
Phenotype details microcephaly; growth delay; motor delay; 34m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia, ataxia; myoclonus, stereotypies; MRI brain 2y-thin corpus callosum; cerebelar hypoplasia; blepharophimosis, low-set ears, short philtrum, retroprognatism, clinodactyly; no hearing loss; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance
Inheritance Isolated (sporadic)
Age/Examination 2y (2 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 11:38:45 +01:00 (CET)
Date last edited N/A

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