Arterial tortuosity syndrome

Autosomal recessive

Childhood, Infancy

Arthrogryposis multiplex congenita-whistling face syndrome

Autosomal recessive

Antenatal, Neonatal

Arthrogryposis-anterior horn cell disease syndrome

Autosomal recessive

Antenatal

Arthrogryposis-ectodermal dysplasia syndrome

Unknown

Infancy, Neonatal

Arthrogryposis-hyperkeratosis syndrome, lethal form

Unknown

Neonatal

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Unknown

Neonatal

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Autosomal dominant, Autosomal recessive

Neonatal

Arthrogryposis-renal dysfunction-cholestasis syndrome

Autosomal recessive

Neonatal

Arthrogryposis-severe scoliosis syndrome

Neonatal

Ascher syndrome

Not applicable

Neonatal

Astley-Kendall dysplasia

Autosomal recessive

Antenatal, Neonatal

Ataxia-deafness-intellectual disability syndrome

Unknown

Childhood, Infancy

Ataxia-pancytopenia syndrome

Autosomal dominant

Adolescent, Adult, Childhood

Ataxia-photosensitivity-short stature syndrome

Unknown

Childhood, Infancy

Atelosteogenesis type I

Autosomal dominant

Antenatal, Neonatal

Atelosteogenesis type II

Autosomal recessive

Infancy, Neonatal

Atelosteogenesis type III

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Autosomal recessive

Childhood

Atkin-Flaitz syndrome

X-linked dominant

Neonatal

Atrial septal defect-atrioventricular conduction defects syndrome

Autosomal dominant

No data available

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Neonatal

Atypical Norrie disease due to Xp11.3 microdeletion

Not applicable

Neonatal

Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

Unknown

Antenatal, Infancy, Neonatal

Auriculocondylar syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal