POMT2-related limb-girdle muscular dystrophy R14

Autosomal recessive

Infancy

PPARG-related familial partial lipodystrophy

Autosomal dominant

Adult

PPoma

Not applicable

Adult

PRDM8-related progressive myoclonus epilepsy

Autosomal recessive

Childhood

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Autosomal dominant

Adult

PTEN hamartoma tumor syndrome

Autosomal dominant

All ages

PUM1-associated developmental disability-ataxia-seizure syndrome

Autosomal dominant

Infancy, Neonatal

PUM1-related cerebellar ataxia

Autosomal dominant

Adult

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Autosomal dominant, Not applicable, Unknown

Infancy, Neonatal

Pachyonychia congenita

Autosomal dominant, Autosomal recessive

All ages

Paget disease of the nipple

Adult

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 colipase deficiency

Autosomal recessive

Infancy

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Autosomal dominant

All ages

Pancreatic insufficiency-anemia-hyperostosis syndrome

Autosomal recessive

Infancy, Neonatal

Pancreatic solid pseudopapillary neoplasm

Not applicable

Adult

Pancreatic triacylglycerol lipase deficiency

Not applicable

Infancy

Pancreatoblastoma

Not applicable

Adult, Childhood