Phenotype #0000233325

Individual ID 00307902
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; severe global developmental delay; behavioral difficulties with tantrums and head banging; seizures; focal polymicrogyria, cerebellar atrophy; hypospadias, cryptorchidism; VSD, dysplastic pulmonary valve; submucous cleft palate; epiblepharon; round face, flat facial profile; down-slanting corners of mouth
Inheritance Isolated (sporadic)
Age/Examination 00y16m (16 months)
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 2020-08-21 08:54:19 +02:00 (CEST)
Date last edited 2020-08-21 09:01:03 +02:00 (CEST)

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