Phenotype #0000321972

Individual ID	00431378
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	birth weight -1.17, length -0.77, OFC -0.9; weight +1, height -1, OFC +1; motor delay (HP:0001270); 18m-walk; moderate intellectual disability (HP:0001249); language delay (HP:0000750), single words; no behavioral problems; no neurological features; coarse facies, prominent forehead epicanthus, thin upper lip; patent foramen ovale; MRI brain reduced white matter volume
Age/Examination	2y (2 years)
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