Open iniencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Open spinal dysraphism

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Open spinal dysraphism with a myelomeningocele

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

Autosomal dominant

Ophthalmomandibulomelic dysplasia

No data available

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Neonatal

Opitz GBBB syndrome

X-linked recessive

Antenatal, Infancy, Neonatal

Opsismodysplasia

Autosomal recessive

Neonatal

Opsoclonus-myoclonus syndrome

Not applicable

Childhood, Infancy

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Autosomal recessive

Adolescent, Childhood, Infancy

Optic atrophy-intellectual disability syndrome

Autosomal dominant

Neonatal

Optic pathway glioma

Not applicable

All ages

Oral submucous fibrosis

All ages

Orbital leiomyoma

Unknown

Adult

Orgasm-induced epilepsy

Adult

Ornithine transcarbamylase deficiency

X-linked recessive

All ages

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

Orofaciodigital syndrome type 1

Not applicable, X-linked dominant

Antenatal, Infancy, Neonatal

Orofaciodigital syndrome type 11

Not applicable

Neonatal

Orofaciodigital syndrome type 14

Autosomal recessive

Antenatal, Neonatal

Orofaciodigital syndrome type 18

Autosomal recessive

Neonatal

Orofaciodigital syndrome type 2

Autosomal recessive

Antenatal, Infancy, Neonatal

Orofaciodigital syndrome type 4

Autosomal recessive

Antenatal, Infancy, Neonatal

Orofaciodigital syndrome type 5

Autosomal recessive

Infancy, Neonatal