AICARDI-GOUTIERES SYNDROME 5

AGS5

http://purl.bioontology.org/ontology/OMIM/612952

AGS5

C2749659

20q11.2

CHBL2

SAMHD1

DCIP

AGS5

http://purl.bioontology.org/ontology/OMIM/MTHU035950

http://purl.bioontology.org/ontology/OMIM/MTHU012515

http://purl.bioontology.org/ontology/OMIM/MTHU001896

http://purl.bioontology.org/ontology/OMIM/MTHU002170

http://purl.bioontology.org/ontology/OMIM/MTHU013157

http://purl.bioontology.org/ontology/OMIM/MTHU054782

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU013153

http://purl.bioontology.org/ontology/OMIM/MTHU037415

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU000363

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU013158

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU013152

http://purl.bioontology.org/ontology/OMIM/MTHU033982

Phenotype description, molecular basis known.

612952

3

pound

AICARDI-GOUTIERES SYNDROME 5

Caused by mutation in the SAM domain- and HD domain-containing protein 1 gene (SAMHD1, 606754.0001) [MOLECULAR BASIS]

Variable severity [MISCELLANEOUS]

Onset in utero or at birth [MISCELLANEOUS]

Later onset in early childhood may occur [MISCELLANEOUS]

T047