Phenotype #0000318733

Individual ID	00427719
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., age onset early childhood; severe global developmental delay; Infantile hypotonia; normal hearing; poor vision at low light conditions; wide-based gait; delayed speech, 5y6m-remains non verbal; autism spectrum disorder; social anxiety; no seizures; MRI brain partial agenesis of corpus callosum agenesis (posterior part corpus and splenium) with colpocephaly, mild third ventricle dilation; weight 3rd-10th centile; height 2nd centile; OFC 2nd -50th centile; mildly hypotonic face, mildly hypotonic face, mildly flat face, everted lower lip, anteverted nares; feeding difficulties, constipation, gastroesophageal reflux; scalp psoriasis, polyarthralgia
Inheritance	Isolated (sporadic)
Age/Examination	5y6m (5 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-12 19:44:10 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD