Phenotype #0000292634

Individual ID	00399529
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	weight 30 (-4.35), height 125.7 (-6), OFC 50 (-2.86); growth failure; severe developmental/intellectual delay ; not achieved walking; speech delay, not achieved first words, no speech; hypotonia; no seizures; 1y/2y/12y-MRI brain hypomyelination subcrotical white matter bilaterally in anterotemporal and subinsular areas, loss of white matter volume in the parieto-occipital areas with thin splenium, minimal volume loss vermis; behavioural anomalies, autism spectrum disorder; no cardiac anomalies; bilateral ptosis, hypermetropia, astigmatism.; no urogenital/kidney anomalies; hands brachdactyly, proximal implant of thumbs; feet bilateral talipes; short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; feeding difficulties; facial dysmorphism, short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; hypertrichosis
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-21 14:10:33 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD