Phenotype #0000142603

Individual ID 00180149
Associated disease ?
Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations
Diagnosis/Definite BOPS
Phenotype details Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), intrauterine growth retardation (HP:0001511), severe failure to thrive (HP:0001525), microcephaly (HP:0000252), severe global developmental delay (HP:0011344), atrial septum defect (HP:0001631), sensorineural hearing impairment (HP:0000407), myopia (HP:0000545), facial dysmorphism: bitemporal narrowing (HP:0000341), sparse hair (HP:0008070).
Inheritance Familial, autosomal dominant
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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