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DOID:0050656 - pseudo-TORCH syndrome 1
Disease Ontology Definition:An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria.
Synonyms: band-like calcification with simplified gyration and polymicrogyria,
Echinobase Genes :
MIM:251290 - band-like calcification with simplified gyration and polymicrogyria; blcpmg |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)