PDE4D haploinsufficiency syndrome

Unknown

Infancy, Neonatal

PHACE syndrome

Unknown

Antenatal, Infancy, Neonatal

PHAVER syndrome

Autosomal recessive

Infancy, Neonatal

PLAA-associated neurodevelopmental disorder

Autosomal recessive

Infancy, Neonatal

PMP22-RAI1 contiguous gene duplication syndrome

Unknown

Childhood, Infancy

PRUNE1-related neurological syndrome

Autosomal recessive

Infancy, Neonatal

PYCR2-related microcephaly-progressive leukoencephalopathy

Autosomal recessive

Infancy

Pachydermoperiostosis

Autosomal dominant, Autosomal recessive

Childhood

Pachygyria-intellectual disability-epilepsy syndrome

Childhood

Pai syndrome

Unknown

Antenatal, Neonatal

Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

Unknown

Adolescent

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

Pallister-Hall syndrome

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Pallister-Killian syndrome

Not applicable, Unknown

Antenatal, Neonatal

Pancreatic arteriovenous malformation

Not applicable

Paraplegia-intellectual disability-hyperkeratosis syndrome

X-linked recessive

Infancy

Parietal foramina with clavicular hypoplasia

Autosomal dominant

Infancy, Neonatal

Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Autosomal recessive

Neonatal

Partington syndrome

X-linked recessive

Childhood

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Autosomal dominant

Infancy, Neonatal

Paternal 20q13.2q13.3 microdeletion syndrome

Not applicable

Antenatal, Neonatal

Paternal uniparental disomy of chromosome 1 syndrome

Not applicable, Unknown

Infancy, Neonatal

Paternal uniparental disomy of chromosome 13 syndrome

Antenatal, Neonatal

Paternal uniparental disomy of chromosome 20 syndrome

Antenatal, Neonatal