Oculocutaneous albinism type 1A

Autosomal recessive

Infancy, Neonatal

Oculocutaneous albinism type 1B

Autosomal recessive

Infancy, Neonatal

Odontohypophosphatasia

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Odontoleukodystrophy

Autosomal recessive

Infancy

Open iniencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Osteogenesis imperfecta type 1

Autosomal dominant

Childhood

Osteogenesis imperfecta type 2

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Osteogenesis imperfecta type 3

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Osteogenesis imperfecta type 4

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Osteogenesis imperfecta type 5

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Ovarioleukodystrophy

Autosomal recessive

Adolescent, Adult, Childhood

PLG-related hereditary angioedema with normal C1Inh

Autosomal dominant

Adolescent, Adult, Childhood, Elderly

PPARG-associated congenital generalized lipodystrophy

Autosomal recessive

Parietal encephalocele

Partial atrioventricular septal defect with ventricular hypoplasia

Not applicable

Partial atrioventricular septal defect without ventricular hypoplasia

Not applicable

Partial cryptophthalmia

Antenatal, Neonatal

Partial hydatidiform mole

Not applicable

Adult

Pauci-immune glomerulonephritis with ANCA

Not applicable

Adult, Elderly

Pauci-immune glomerulonephritis without ANCA

Not applicable

Adolescent, Adult, Childhood

Peeling skin syndrome type A

Autosomal recessive

Infancy, Neonatal

Peeling skin syndrome type B

Autosomal recessive

Infancy, Neonatal

Pelizaeus-Merzbacher disease in female carriers

X-linked recessive

Adult

Pelizaeus-Merzbacher disease, classic form

X-linked recessive

Infancy, Neonatal