Phenotype #0000142640

Individual ID 00180186
Associated disease ?
Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations
Diagnosis/Definite lack of data, just one familial case described.
Phenotype details Epilepsy (HP:0001250), epileptic spasms (West syndrome) (HP:0011097), myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), facial dysmorphism: coarse facial features (HP:0000280), inguinal hernia (HP:0000023), umbilical hernia (HP:0001537), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212), high palate (HP:0002705), hoarse voice (HP:0001609), opisthotonos (HP:0002179), increased muscle tone (HP:0001276), resting tremor (HP:0002322), neurodegeneration (HP:0002180)
Inheritance Familial, autosomal recessive
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 2018-08-24 19:40:22 +02:00 (CEST)
Date last edited N/A

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