Aceruloplasminemia

Acrodysostosis

Acute Leukemia

Alagille syndrome

Albinism

Allan-Herndon- Dudley syndrome

Allan-Herndon-Dudley syndrome

Alstrom syndrome

Alternating Hemiplegia of Childhood

Ambiguous genitalia

Angelman syndrome

Aniridia

Arthrogryposis

Asymmetrical polymicrogyria

Ataxia

Atypical Rett syndrome

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autosomal dominant tubulointerstitial kidney disease

Autosomal recessive non-specific intellectual disability

Autosomal recessive non-syndromic hydrocephalus

Autosomal recessive primary microcephaly