Phenotype #0000037118

Individual ID 00050506
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite HJS1
Phenotype details global developmental delay, seizures, ventriculomegaly, narrow forehead, downslanted palpebral fissures, pyloric stenosis, narrow palate, generalized hypotonia, macrocephaly, ventriculomegaly
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2025-03-18 15:55:55 +01:00 (CET)

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