Phenotype #0000343441

Individual ID 00454831
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay, Léri-Weill dyschondrosteosis
Diagnosis/Definite MGCPH;LWD
Phenotype details see paper; ..., autism spectrum disorder, intellectual disability (IQ 55), macrocephaly; MRI brain normal
Inheritance Familial, autosomal recessive
Age/Examination 4y (4 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 2024-09-28 10:13:26 +02:00 (CEST)
Date last edited N/A

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