5-oxoprolinase deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

5q22 microdeletion syndrome

Not applicable

Adult

6q16 microdeletion syndrome

Unknown

Antenatal, Infancy, Neonatal

AA amyloidosis

Not applicable

Adolescent, Adult, Childhood

AApoAIV amyloidosis

Not applicable

Adult

ADAR-related hereditary spastic paraplegia

Autosomal dominant

AGR2-related infantile-onset inflammatory bowel disease

Autosomal recessive

AGel amyloidosis

Autosomal dominant

Adult

AH amyloidosis

Not applicable

Neonatal

AICA-ribosiduria

Autosomal recessive

Antenatal, Infancy, Neonatal

AKT2-related familial partial lipodystrophy

Autosomal dominant

Adult

AL amyloidosis

Not applicable

Adult

ALECT2 amyloidosis

Not applicable

ALG1-CDG

Autosomal recessive

Infancy, Neonatal

ALG11-CDG

Autosomal recessive

Infancy, Neonatal

ALG12-CDG

Autosomal recessive

Infancy, Neonatal

ALG13-CDG

X-linked recessive

Infancy, Neonatal

ALG2-CDG

Autosomal recessive

Infancy, Neonatal

ALG3-CDG

Autosomal recessive

Infancy, Neonatal

ALG6-CDG

Autosomal recessive

Infancy, Neonatal

ALG8-CDG

Autosomal recessive

Antenatal, Infancy, Neonatal

ALG9-CDG

Autosomal recessive

Antenatal, Infancy, Neonatal

ALK-positive large B-cell lymphoma

Multigenic/multifactorial, Not applicable

ALPI-related inflammatory bowel disease

Autosomal recessive

Adolescent, Infancy