Phenotype #0000330532

Individual ID 00440620
Associated disease PVNH
Diagnosis/Initial periventricular nodular heterotopia
Diagnosis/Definite PVNH8
Phenotype details microcephaly; no growth delay; motor delay; 36m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; 4y-partial epilepsy; EEG abnormal; hypotonia; motor stereotypie; MRI brain 12y-thin corpus callosum; cerebral and cerebellar atrophy; long palpebral fissures, prominent nose, hight nasal root, short philtrum, dental malposition, microretrognathia; no hearing loss; astygmatism; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; 2 hyperchromic spots; normal endocrine system; no sleep disturbance
Inheritance Isolated (sporadic)
Age/Examination 14y (14 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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