Phenotype #0000321976

Individual ID	00431382
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	birth weight -1.2, length -0.4, OFC +1; weight -1.7, height +0.2, OFC -2.1; motor delay (HP:0001270); not walking; no behavioral problems; no neurological features; prominent forehead, depressed nasal root, broad nose tip, prominent nares, long philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, mild frontoparietal cortical atrophy, wide interhemispheric fissure, bilateral mild deep sylvian fissure, periventricular white matter T2 hyperintensities
Age/Examination	1y (1 year)
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