Phenotype #0000041337

Individual ID	00054658
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; born 32w, necrotizing enterocolitis, chronic lung disease, dysmorphic, brachyphalangy, 2–3 toe syndactyly, elbow/knee flexion contractures, severe bilateral hip dysplasia; 5m intractable seizure disorder with multifocal spike and slow wave activity on EEG followed by developmental regression; 2y died of respiratory infection; congenital cataracts, intermittent episodes abdominal distress, vomiting, growth failure normal OFC, normal growth; MRI brain normal in neonates, 9m loss of white matter and cerebral volume, ...
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
Created by	Johan den Dunnen
Date created	2015-11-07 17:45:42 +01:00 (CET)
Date last edited	2015-11-07 18:54:47 +01:00 (CET)

Global Variome shared LOVD