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GENATLAS PHENOTYPE

last update : 13-03-2017

Symbol	NISDS
Location	8p21.1
Name	neuro-immuno-skeletal dysplasia syndrome
Corresponding gene	EXTL3
Main clinical features	platyspondyly (red boxes) with progressively severe kyphosis with increasing age, delay in carpal bone ossification, coxa valga, and small capital femoral epiphyses; elbow radiographs show dislocated radial heads with dysplastic radial heads complete or nearly complete absence of T cells but normal counts of B and natural killer (NK) cells motor development appears to be seriously affected by the EXTL3-related neuro-skeletal features in most of the reported affected individuals death often in early infancy
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
	osteo-articular
Type	disease

Remark(s)

biallelic mutations in EXTL3 disturb glycosaminoglycan synthesis (PMID: 28132690))