Phenotype #0000296508

Individual ID	00403827
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	NEDMIGS
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., normal vaginal delivery at term, birth weight 3175g; OFC31.5 cm; weight 13 kg (3rd percentile), height 98 cm (40th percentile), OFC 46.5 cm (<3rd percentile); global developmental delay, failure to thrive; 3y-smiles; 4y-roll; 2y6m-head control; 4y-no sit; not walking; global developmental delay; central, generalized and severe hypotonia; increased deep tendon reflexes (+3); 2y-seizure disorder, tonic episodes, changes to atonic episodes with cyanosis; MRI brain 2y dilated lateral ventricles, multiple areas of brain atrophy, thin corpus callosum; not fixing or following with positive pupillary respons; impaired vision/vision loss; sensorineural hearing loss on left ear; mild dysmorphism, coarse facial features; nystagmus until 1.5y
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-24 12:36:41 +01:00 (CET)
Date last edited	2022-02-24 14:54:28 +01:00 (CET)

Global Variome shared LOVD