PUM1-related cerebellar ataxia

Autosomal dominant

Adult

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Autosomal dominant, Not applicable, Unknown

Infancy, Neonatal

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Autosomal dominant, Not applicable

Infancy, Neonatal

PYCR1-related De Barsy syndrome

Autosomal recessive

PYCR2-related microcephaly-progressive leukoencephalopathy

Autosomal recessive

Infancy

Pachydermoperiostosis

Autosomal dominant, Autosomal recessive

Childhood

Pachygyria-intellectual disability-epilepsy syndrome

Childhood

Pachyonychia congenita

Autosomal dominant, Autosomal recessive

All ages

Paget disease of the nipple

Adult

Pai syndrome

Unknown

Antenatal, Neonatal

Painful legs and moving toes syndrome

Adult

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

Palmoplantar keratoderma, Nagashima type

Autosomal recessive

Childhood, Infancy

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Autosomal recessive

Childhood

Palmoplantar keratoderma-deafness syndrome

Autosomal dominant, Mitochondrial inheritance

Childhood

Palmoplantar keratoderma-esophageal carcinoma syndrome

Autosomal dominant

Adolescent, Adult

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Childhood, Infancy, Neonatal

Palmoplantar keratoderma-spastic paralysis syndrome

Autosomal dominant

All ages

Pancreatic agenesis-holoprosencephaly syndrome

Autosomal dominant

Antenatal

Pancreatic arteriovenous malformation

Not applicable

Pancreatic colipase deficiency

Autosomal recessive

Infancy