Phenotype #0000333157

Individual ID 00443880
Associated disease DEE
Diagnosis/Initial -
Diagnosis/Definite DEE89
Phenotype details see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage
Inheritance Familial, autosomal recessive
Age/Examination 9d
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 2023-12-05 10:17:31 +01:00 (CET)
Date last edited N/A

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