Phenotype #0000155301

Individual ID	00154934
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	Two episodes of febrile seizures at the age of 17 months, but these did not recur. Hypotonia, moderate global developmental delay and autism at 2.5 years old. High palate and slight hirsutism. Low ferritin, but normal total iron binding capacity. Normal serum ALP level. EEG and brain MRI were normal. He did not have abnormal digits or nails on the hands and feet.; moderate global developmental delay (HP:0011343)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-23 18:26:43 +01:00 (CET)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD