Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 26-05-2021

Symbol	NDDCCA
Location	2p23.3
Name	neurodevelopmental disorder with corpus callosum agenesis
Corresponding gene	DPYSL5
Main clinical features	delayed development with hypotonia and severe ID and often with absent speech and behavioral problems, mainly aggressiveness abnormal movements, ataxia, and strabismus corpus callosum agenesis was observed in all individuals and associated with anomalies of the posterior fossa, consisting mostly of cerebellar hypoplasia or Dandy-Walker malformation with encephalocele
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

. recurrent de novo p.Glu41Lys varian, and a p.Gly47Arg variant cause a defective inhibitory regulation of neurite outgrowth and dendrite development, and they are responsible for a severe syndromic form of NDD/ID with brain malformations (PMID: 33894126))