Phenotype #0000292355

Individual ID	00399243
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	NEDSGA
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., prenatal period unremarkable, birth 40w, weight 3,320 g (25P); neonatal irritability, stiffness; no congenital anomalies; failure to thrive, short stature, microcephaly; severe developmental delay; no speech; MRI brain bilateral symmetric extensive atrophy frontal lobes, mild frontal ventriculomegaly, thin corpus callosum ; social smile, interaction with caregivers; muscle severe spastic quadriplegia, hypertonia with contractures; not walking; 5w-onset intractable generalized seizures; prognathism, midface retrusion, short philtrum, large ears; EEG diffuse cerebral disturbance without electrographic correlates to seizures; bilateral hiatal hernias, gastresophageal reflux, feeding difficulties, apneas, recurrent respiratory infections in first year of life, strabismus, choreiform movements
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-17 18:24:48 +01:00 (CET)
Date last edited	2022-01-17 18:25:53 +01:00 (CET)

Global Variome shared LOVD