Phenotype #0000321968

Individual ID	00431374
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	weight -1.2, height 0, OFC -2.5; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; no neurological features; marked epicantus, large ears, tented mouth, short philtrum inverted nasal tip; atrial septal defect, large patent ductus arteriosus; MRI brain normal
Age/Examination	3y (3 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