ANE syndrome

Autosomal recessive

Adult

ANK3-related intellectual disability-sleep disturbance syndrome

Autosomal recessive

Childhood

AREDYLD syndrome

Autosomal recessive

Neonatal

ARX-related encephalopathy-brain malformation spectrum

Antenatal, Childhood, Infancy, Neonatal

ATP13A2-related parkinsonism

Adolescent, Childhood

ATP6AP1-CDG

X-linked recessive

Antenatal, Infancy, Neonatal

ATTRV122I amyloidosis

Autosomal dominant

Adult

ATTRV30M amyloidosis

Autosomal dominant

Adult

AXIN2-related polyposis

Autosomal dominant

Adult

Aarskog-Scott syndrome

Autosomal dominant, Autosomal recessive, X-linked recessive

Childhood

Aase-Smith syndrome type 1

Autosomal dominant

Antenatal, Neonatal

Abetalipoproteinemia

Autosomal recessive

Childhood, Infancy

Ablepharon macrostomia syndrome

Autosomal dominant

Antenatal, Neonatal

Abnormal origin of right or left pulmonary artery from the aorta

Infancy, Neonatal

Abruzzo-Erickson syndrome

X-linked recessive

Antenatal

Absence deformity of leg-cataract syndrome

Antenatal

Absence of fingerprints-congenital milia syndrome

Autosomal dominant

Childhood

Absence of the pulmonary artery

Not applicable

All ages

Absent radius-anogenital anomalies syndrome

Antenatal, Neonatal

Absent thumb-short stature-immunodeficiency syndrome

Unknown

Infancy, Neonatal

Absent tibia-polydactyly-arachnoid cyst syndrome

Unknown

Infancy, Neonatal

Acalvaria

Not applicable

Antenatal, Neonatal

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Adult

Acatalasemia

Autosomal recessive

All ages