Phenotype #0000210506

Individual ID	00275907
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SNIBCPS
Phenotype details	global developmental delay; no walking yet; fine motor delay; no first words yet; no speech; did not receive speech/language therapy; Has not started speaking yet, uses melodic vocalization; Moderate intellectual disability; no autism/autistic features; no ADHD/ADD; Very attentive, pleasant social behaviour. Since age 8m recurrent oculogyral crisis and episodes of sudden movement (thrusting upward of the thorax). Also recurrent "shuddering" when emotional; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces, bilateral cerebral atrophy, bifrontal hygromas; wide CSF spaces; hypotonia; pathological EEG at age 8m, recent EEG unremarkable (without therapy); episodes of spontaneous movement (before truncal upthrust and oculogyral crisis, now emotional head "shuddering"; frontal bossing; widely spaced eyes; normal teeth; normal palate; neonatal respiratory distress after RSV infection, ICU for 2d; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; multiple skin creases on left posterior thigh
Inheritance	Isolated (sporadic)
Age/Examination	12m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-20 21:55:37 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD