Non-specific syndromic intellectual disability

Autosomal dominant, Autosomal recessive, X-linked recessive

Childhood, Infancy

Non-spherocytic hemolytic anemia due to hexokinase deficiency

Autosomal recessive

Infancy

Non-syndromic agammaglobulinemia

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Non-syndromic male infertility due to sperm motility disorder

Autosomal recessive

Adult

North Carolina macular dystrophy

Autosomal dominant

Childhood

O'Sullivan-McLeod syndrome

Adult

OBSOLETE: Primary intraocular lymphoma

Not applicable

Adult

OBSOLETE: X-linked retinal dysplasia

Childhood

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Unknown

Infancy, Neonatal

Occipital horn syndrome

X-linked recessive

Childhood, Infancy, Neonatal

Occult macular dystrophy

Autosomal dominant

All ages

Ocular albinism with late-onset sensorineural deafness

X-linked recessive

Adult

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Autosomal dominant

Infancy, Neonatal

Ocular motor apraxia, Cogan type

Autosomal recessive

Childhood

Ocular surface squamous neoplasia

Adolescent, Adult, Childhood, Elderly

Oculocutaneous albinism type 1

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 2

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 3

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 4

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 5

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 6

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 7

Autosomal recessive

Neonatal

Oculocutaneous albinism type 8

Autosomal recessive

Childhood

Oculogastrointestinal muscular dystrophy

Autosomal recessive

Childhood