Phenotype #0000172838

Individual ID	00001639
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT-39
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., born normal growth parameters, an unremarkable pregnancy/delivery, uncomplicated neonatal period; 30–36y, occipitofrontal circumference −3 to −4SD, severe cognitive impairment, severe speech delay, behavioral disturbances, no seizures, short stature, vertebral anomalies, sloping forehead, deep set eyes, anteverted large ears; normal circulating T, B, NK cell counts, mild naive T (CD4, CD8) lymphocytopenia; neurological examination normal, molecular karyotyping normal, normal metabolic workup; severe intellectual disability (HP:0010864); severe speech delay (HP:0000750)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-03-29 14:19:48 +01:00 (CET)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD