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Summary
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (NEDHAHM)
VAMP2
618760
OMIM = Online Medalian Inheritance of Men
---
17p13.1
very rare
autosomal dominant
mutation in the VAMP2 gene
symptoms
behavior, autism or autistic-like
behavior, self-mutilating or destructive
blindness, visual loss, visual impairment
chorea or athetosis
defect of walking, running, rising or climbing
developmental delay
dystonia
encephalopathy
epilepsy
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, infancy
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities -
EEG abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Boy N,et al.Newborn screening: A disease-changing intervention for glutaric aciduria type 1Ann Neurol002018
Peng HH,Shaw SW, Huang KGPrenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH geneTaiwan J Obstet Gynecol571137-1402018