Phenotype #0000333752

Individual ID 00444499
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorders
Diagnosis/Definite MRLIAF
Phenotype details see paper; ..., intellectual disability severe (IQ 20), global developmental delay, hypotonia, absent speech, autism; 7y-epilepsy; cerebral MRI: small periventricular heterotopia and dilated, cortical veins, extensive naevus; height -1.7 SD, weight +0.5 SD
Inheritance Isolated (sporadic)
Age/Examination 31y (31 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-12-24 18:16:19 +01:00 (CET)
Date last edited 2023-12-24 18:22:36 +01:00 (CET)

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