NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (NEDHAHM)

Question 1

What is  NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (NEDHAHM)?

Accepted Answer

very rare

autosomal dominant

mutation in the VAMP2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618760

Question 3

Which enzymes are involved?

Accepted Answer

Disorders of synaptic vesicles

Disease	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (NEDHAHM)
Synonym	VAMP2
OMIM	618760 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	17p13.1
ICD
Summary	very rare autosomal dominant mutation in the VAMP2 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
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 EEG abnormalities [-] encephalopathy epilepsy hypotonia intellectual disability/intellectual developmental disorder MRI, brain, abnormalities [-] onset, infancy seizures speech development, delayed, abnormal