Phenotype #0000343480

Individual ID	00454873
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; moderate-severe global developmental delay; 2y-walk, ongoing ataxic broad based gait and less mobile over last few years (used to run but less so now); no speech (did have a very small number of words by age 3 years but now non-verbal uses ipad communicaiton board and minimal sign language); intellectual disability; behavioral issues; uses melatonin?CBD oil to assist with sleep. Wakes frequently in night Susceptible to tantrums and can be aggressive to self and others; hypotonia; seizures; MRI brain abnormal, 4y-hite matter volume loss and some associated high signal within the centrum semiovale white matter, more marked on the left than the right. This may relate to previous white matter injury. - Myelination has progressed from the previous study and is otherwise within normal limits. - The cerebellar vermis, cerebellar and cerebellar peduncles are unremarkable and no evidence of a Jouberts syndrome. - 3 mm pineal cyst.
Inheritance	Isolated (sporadic)
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-30 10:26:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD