Phalangeal microgeodic syndrome

Not applicable

Childhood

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

Multigenic/multifactorial, Not applicable

All ages

Phelan-McDermid syndrome

Not applicable, Unknown

Infancy, Neonatal

Phelan-McDermid syndrome due to 22q13.3 deletion

Not applicable

Phelan-McDermid syndrome due to SHANK3 mutation

Autosomal dominant

Phenobarbital embryopathy

Not applicable

Antenatal, Neonatal

Phenylketonuria

Autosomal recessive

Infancy

Phocomelia, Schinzel type

Autosomal recessive

Antenatal, Infancy, Neonatal

Phosphoenolpyruvate carboxykinase deficiency

Autosomal recessive, Mitochondrial inheritance

Infancy, Neonatal

Phosphoribosylpyrophosphate synthetase superactivity

X-linked recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Phosphoserine aminotransferase deficiency, infantile/juvenile form

Autosomal dominant

Infancy, Neonatal

Photosensitive occipital lobe epilepsy

Adolescent, Adult, Childhood

Phyllodes tumor of the breast

Adult

Phyllodes tumor of the prostate

Adult, Elderly

Piebald trait-neurologic defects syndrome

No data available

Piebaldism

Autosomal dominant

Infancy, Neonatal

Pierpont syndrome

Autosomal dominant

Infancy, Neonatal

Pierre Robin syndrome-faciodigital anomaly syndrome

X-linked recessive

Infancy, Neonatal

Pierson syndrome

Autosomal recessive

Childhood, Neonatal

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

Autosomal recessive

Infancy

Pigmented paravenous retinochoroidal atrophy

Autosomal dominant, Not applicable

All ages

Pili bifurcati

Childhood

Pili gemini

Adolescent, Adult, Childhood, Elderly

Pili torti

Autosomal recessive

Infancy, Neonatal