Phenotype #0000321958

Individual ID	00431364
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	birth weight -0.5, length +0.3, OFC +05; weight -2.1, height +1, OFC -1.2; motor delay (HP:0001270); not walking; intellectual disability IQ 45; language delay (HP:0000750), no speech; outbursts of anger, hyperactivity, anxiety; no neurological features; prominent forehead, hypertelorism, down-slanting palpebral fissures, depressed broad nasal root, long philtrum, thin upper lip, everted lower lip, low set ears; MRI brain thin corpus callosum, myelination delay
Age/Examination	4y3m (4 years, 3 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