Phenotype #0000352874

Individual ID	00467708
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Unknown
Phenotype details	see paper; ..., developmental delay, intellectual disability, characteristic facial dysmorphisms, triangular face, deep-set eyes, prominent forehead, no narrow/short palpebral fissure, deep-seated eyes, sparse eyebrows, malar hypoplasia, no strabismus, no hypertelorism, no prominent nose, broad nose, no short philtrum, low-set ears, full lips, no wide mouth
Age/Examination	00y11m (11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-27 17:05:49 +01:00 (CET)
Date last edited	2025-10-27 17:20:06 +01:00 (CET)

Global Variome shared LOVD