Piebald trait-neurologic defects syndrome

No data available

Pierpont syndrome

Autosomal dominant

Infancy, Neonatal

Pierre Robin syndrome-faciodigital anomaly syndrome

X-linked recessive

Infancy, Neonatal

Pierson syndrome

Autosomal recessive

Childhood, Neonatal

Pili torti-developmental delay-neurological abnormalities syndrome

Infancy

Pili torti-onychodysplasia syndrome

Autosomal recessive

Infancy, Neonatal

Pilodental dysplasia-refractive errors syndrome

Autosomal recessive

Infancy, Neonatal

Pitt-Hopkins syndrome

Autosomal dominant

Infancy, Neonatal

Platyspondylic dysplasia, Torrance type

Autosomal dominant

Antenatal, Infancy, Neonatal

Poirier-Bienvenu neurodevelopmental syndrome

Autosomal recessive

Infancy, Neonatal

Poland syndrome

Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

Antenatal, Infancy, Neonatal

Polydactyly-myopia syndrome

Autosomal dominant

Infancy, Neonatal

Polymicrogyria due to TUBB2B mutation

Autosomal dominant

Infancy, Neonatal

Polymicrogyria with optic nerve hypoplasia

Autosomal recessive

Infancy, Neonatal

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Adult

Polyrrhinia

Not applicable

Antenatal, Neonatal

Polysyndactyly-cardiac malformation syndrome

Autosomal recessive

Infancy, Neonatal

Pontocerebellar hypoplasia type 1

Autosomal recessive

Neonatal

Pontocerebellar hypoplasia type 10

Autosomal recessive

Neonatal

Pontocerebellar hypoplasia type 11

Autosomal recessive

Antenatal, Neonatal

Pontocerebellar hypoplasia type 12

Autosomal recessive

Antenatal, Neonatal

Pontocerebellar hypoplasia type 13

Autosomal recessive

Neonatal

Pontocerebellar hypoplasia type 14

Autosomal recessive

Antenatal, Neonatal

Pontocerebellar hypoplasia type 2

Autosomal recessive

Infancy, Neonatal