Phenotype #0000021240

Individual ID	00025128
Associated disease	NEDDSBA;MRT42;GPIBD9
Phenotype details	At birth, the older sister was hypotonic and his borther was a floppy baby. Both children have a developmental delay and severe intellectual disability with an estimated IQ below 35. The girl had major and absence epilepsy. They showed some stereotypic movements. Brain CT scan of the girl at age of one year revealed pronounced brain atrophy. They had microcephaly. Both children have large ears and a flattened nasal root. Their parents had head circumferences in the lower percentiles.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2014-12-05 18:36:58 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD