Phenotype #0000337125

Individual ID 00447932
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD59
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., infancy generalized hypotonia, developmental delay, remained hypotonic with markedly delayed gross motor and speech/language skills; 5y-severe intellectual disability, autism; relative macrocephaly, prominent capillary vascular malformations forehead and glabella, minor dysmorphic facial features, severe hypotonia
Age/Examination 05y (5 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 2024-02-02 16:52:01 +01:00 (CET)
Date last edited N/A

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