Disease #04103 (AGS7 (Aicardi-Goutieres syndrome, type 7 (AGS7)), OMIM:615846)

Official abbreviation AGS7
Name Aicardi-Goutieres syndrome, type 7 (AGS7)
OMIM ID 615846
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene IFIH1
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00111407 S_007 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - 0 - - AGS7 Initially normal development, regression, severe ID, spasticity, scoliosis, episodic icterus and skin swelling IFIH1 IFIH1 1 1 Bernt Popp
00155022 - - - - - - - - 0 - - AGS7 Spasticity and intracranial calcification - IFIH1 1 1 Yanick Crow
00375514 - - - M no Japan - - - - - AGS7 overlaps with Singleton-Merten syndrome type 1 - IFIH1 1 1 Kosei Hasegawa
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