Paternal uniparental disomy of chromosome 21 syndrome

Antenatal, Neonatal

Paternal uniparental disomy of chromosome 5 syndrome

Antenatal, Neonatal

Paternal uniparental disomy of chromosome 6 syndrome

Antenatal, Neonatal

Paternal uniparental disomy of chromosome 7 syndrome

Childhood, Infancy

Paternal uniparental disomy of chromosome X syndrome

Neonatal

Patterson-Stevenson-Fontaine syndrome

Autosomal dominant

Antenatal, Neonatal

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Unknown

Neonatal

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Antenatal, Neonatal

Pelvis-shoulder dysplasia

Autosomal dominant

Infancy, Neonatal

Pelviscapular dysplasia

Autosomal recessive

Infancy, Neonatal

Pendred syndrome

Autosomal recessive

Infancy, Neonatal

Pentalogy of Cantrell

Not applicable

Antenatal, Neonatal

Pentasomy X syndrome

Neonatal

Pericardial and diaphragmatic defect

Autosomal recessive, Not applicable

Infancy, Neonatal

Perlman syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Autosomal recessive

Infancy, Neonatal

Persistent Müllerian duct syndrome

Autosomal recessive

Infancy

Peters plus syndrome

Autosomal recessive

Antenatal, Neonatal

Pfeiffer syndrome

Autosomal dominant

Antenatal, Neonatal

Pfeiffer-Palm-Teller syndrome

Neonatal

Phakomatosis pigmentokeratotica

Unknown

Infancy, Neonatal

Phelan-McDermid syndrome

Not applicable, Unknown

Infancy, Neonatal

Phenobarbital embryopathy

Not applicable

Antenatal, Neonatal

Phocomelia, Schinzel type

Autosomal recessive

Antenatal, Infancy, Neonatal