Phenotype #0000346980

Individual ID	00458549
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDHBA
Phenotype details	see paper; ..., pregnancy unremarkable, birth at term, weight 3.8kg (96th), microcephalicy; height 136.5 (98th), weight 23.7kg (75th), 0FC 48.5cm (-1.9); no failure to thrive; mild global developmental delay, mild intellectual disability; no developmental regression; 1.6y-walk; delayed speech, many words, speaks in simple sentences, understands simple commands; normal vision, no hearing loss; dysmorphic features, synophrys, prominent ears; central tone mild hypotonia; peripheral tone no hypotonia; normal deep tendon reflexes; no seizures; disconjugate gaze; autistic features, attentional problems; MRI 8y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, large interthalamic mass, small "slit-like" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules gray matter heterotopia extending from the occipital horns to overlying cortex
Inheritance	Familial, autosomal recessive
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-18 16:32:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD