Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-09-2019

Symbol	SMDS
Location	19p13.3
Name	spondylometaphyseal dysplasia, Sedaghatian type
Corresponding gene	GPX4
Main clinical features	rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage cardiac abnormalities include conduction defects, complete heart block, and structural anomalies frequnt central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	neurology
	osteo-articular
Type	disease

Remark(s)