Phenotype #0000300217

Individual ID	00408089
Associated disease	-
Phenotype details	10 months old male infant was born at term via C-section due to fetal distress. At birth he developed respiratory distress and was admitted to NICU where he was initially diagnosed to have meconium aspiration and required respiratory support. He spent 6 months in NICU. He also had feeding difficulties needed nasogastric then gastrostomy tube feeding, clonic seizures noticed at the age of 2 months, respiratory failure required respiratory support via tracheostomy, clubfeet, hearing impairment, spasticity, patent ductus arteriosus, patent foramen ovale, polymicrogyria, dysplastic corpus callosum, developmental delay, and distinctive facial features (hypertelorism, depressed nasal bridge, small nose, and micrognathia). He had normal growth parameters. Parents were cousins, and he was the only child for them.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Epileptic encephalopathy, early infantile, 28
Age/Examination	10m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD