Phenotype #0000073816

Individual ID	00095416
Associated disease	EJM
Phenotype details	see paper; ..., intellectual disability, no speech, hypotonia; seizures, no epileptic spasms, 2m-6m-myoclonic seizures >150/day, 12m-generalised seizures; nfrequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, thin upper lip, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, hypothyreosis, no brain abnormalities
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Hermann-Josef Lüdecke
Database submission license	No license selected
Created by	Hermann-Josef Lüdecke
Date created	2017-01-16 11:04:22 +01:00 (CET)
Date last edited	2020-07-25 17:36:46 +02:00 (CEST)

Global Variome shared LOVD