Phenotype #0000321963

Individual ID	00431369
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	birth weight -4, length -1.3, OFC -1.7; weight -1.6, height -1.6, OFC -1.6; motor delay (HP:0001270); not walking; intellectual disability IQ 35; language delay (HP:0000750), no speech; outbursts of anger, anxiety; bilateral severe sensorineural hearing loss; coarse facies, prominent forehead, curly hair, down- slanting palpebral fissures, depressed nasal root, long smooth philtrum, tented mouth, low set ears; patent foramen ovale; MRI brain thin corpus callosum, enlarged lateral ventricles, white matter hyperintensities, prominent cerebellar folia
Age/Examination	3y2m (3 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Fernanda Soledad Jalil
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-14 11:22:32 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD