Case#: pt I, 21 y/o male

DiseaseAssertion: GAMT deficiency

FamilyInfo:non-consangeous parents of Yemenite Jewish descent

CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

CaseHPOFreeText: N/A

CaseNotHPOs:N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: abnormal CK and EMG results

Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

GAMT activity assay: N/A

Zygosity: autosomal recessive

Variant 1: OMIM 612718

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A

Case#: N/A

DiseaseAssertion: AGAT mutation

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Biochemical analyte testing: N/A

Brain Magnetic Resonance Spectroscopy (MRS): N/A

GAMT activity assay: N/A

Zygosity: homozygous

Variant 1: OMIM 602360

ClinVarID: 8303

CAID: CA340769

gnomAD: N/A