Pentalogy of Cantrell

Not applicable

Antenatal, Neonatal

Pentasomy X syndrome

Neonatal

Pentosuria

Autosomal recessive

Infancy, Neonatal

Pericardial and diaphragmatic defect

Autosomal recessive, Not applicable

Infancy, Neonatal

Perifoveal exudative vascular anomalous complex

Unknown

Perihilar cholangiocarcinoma

Not applicable

Adult

Perinatal lethal hypophosphatasia

Autosomal recessive

Antenatal, Neonatal

Periodic fever-immunodeficiency-thrombocytopenia syndrome

Autosomal recessive

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

Autosomal dominant

Neonatal

Periodic paralysis with later-onset distal motor neuropathy

Mitochondrial inheritance

Adolescent, Adult

Periodic paralysis with transient compartment-like syndrome

Autosomal dominant

All ages

Periodontal Ehlers-Danlos syndrome

Autosomal dominant

Childhood

Perioral myoclonia with absences

Childhood

Peripartum cardiomyopathy

Unknown

Adult

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Autosomal dominant

Infancy, Neonatal

Peripheral motor neuropathy-dysautonomia syndrome

Unknown

Childhood

Peripheral primitive neuroectodermal tumor

Not applicable

Adolescent, Adult, Childhood

Peritoneal inclusion cyst

Unknown

Adult

Perivascular epithelioid cell neoplasm

Adolescent, Adult, Childhood, Elderly

Periventricular nodular heterotopia

Autosomal dominant, Autosomal recessive, X-linked dominant

Childhood

Perlman syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Permanent congenital hypothyroidism

Autosomal recessive, Not applicable

Infancy, Neonatal

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Autosomal recessive

Infancy, Neonatal

Peroxisomal acyl-CoA oxidase deficiency

Autosomal recessive

Neonatal