Phenotype #0000257262

Individual ID	00361869
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., during pregnancy period of hospitalisation for diarrhoea and vomiting; normal delivery; birth 37w; moderate intellectual disability; developmental delay, global; motor delay, sitting at 0;9y, walking at 2y; speech delay, at 3y no phrase speech, at age 7 significant difficulties with speech: virtually non-verbal as only few descernible words, specialized education; hypotonia; no spasticity; ataxia, although not obvious, unstable on feet, unable to jump, clumsy; severe: obsession, tantrums, meltdowns; erratic and fidgety, will fall asleep eventually, sleeps poorly; brain MRI some very subtle symmetric T2 signal hyper-intensity within the dorsal pons in the central tegmental tracts but no diffusion restriction and finding very non-specific; no regression; slightly wide based gait- no localizing signs. Despite bowel problems, no obvious spina bifida occulta. no other neurological abnormalities long tract signs; prominent forehead and strabismus, slighly brachycephalic; widely spaced teeth; no drooling, dysphagia; no hearing abnormalities; L divergent squint; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; bowel incontinence of unknown origin; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-11 17:48:18 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

PCSK9 (proprotein convertase subtilisin/kexin type 9)

Phenotype #0000257262