Autosomal dominant distal renal tubular acidosis

Autosomal dominant

Adolescent, Adult

Autosomal dominant hypocalcemia

Autosomal dominant

All ages

Autosomal dominant myosin storage myopathy

Autosomal dominant

Autosomal dominant omodysplasia

Autosomal dominant

Infancy, Neonatal

Autosomal dominant proximal renal tubular acidosis

Autosomal dominant

Childhood

Autosomal non-syndromic agammaglobulinemia

Autosomal dominant, Autosomal recessive

All ages

Autosomal recessive Alport syndrome

Autosomal recessive

Childhood

Autosomal recessive Robinow syndrome

Autosomal recessive

Infancy, Neonatal

Autosomal recessive Stickler syndrome

Autosomal recessive

Childhood

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive

Infancy, Neonatal

Autosomal recessive distal renal tubular acidosis

Autosomal recessive

Childhood, Infancy

Autosomal recessive myosin storage myopathy

Autosomal recessive

Autosomal recessive omodysplasia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive

Childhood

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

Autosomal recessive

Neonatal

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Autosomal recessive

Neonatal

Bannayan-Riley-Ruvalcaba syndrome

Autosomal dominant

Infancy, Neonatal

Bartter syndrome type 2

Bartter syndrome type 3

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Bartter syndrome type 4

Autosomal recessive

Antenatal

Bartter syndrome type 5

X-linked recessive

Antenatal

Basal encephalocele