PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

PLAA-associated neurodevelopmental disorder

Autosomal recessive

Infancy, Neonatal

PLCG2-associated antibody deficiency and immune dysregulation

Autosomal dominant

Infancy, Neonatal

PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

Autosomal dominant

Infancy, Neonatal

PLG-related hereditary angioedema with normal C1Inh

Autosomal dominant

Adolescent, Adult, Childhood, Elderly

PLIN1-related familial partial lipodystrophy

Autosomal dominant

Childhood

PLIN4-related distal myopathy

Autosomal dominant

PMM2-CDG

Autosomal recessive

Infancy, Neonatal

PMP2-related Charcot-Marie-Tooth disease type 1

Autosomal dominant

Adolescent, Childhood

PMP22-RAI1 contiguous gene duplication syndrome

Unknown

Childhood, Infancy

POEMS syndrome

Unknown

Adult, Elderly

POGLUT1-related limb-girdle muscular dystrophy R21

Autosomal recessive

Adult

POMGNT1-related limb-girdle muscular dystrophy R15

Autosomal recessive

Adolescent, Childhood

POMGNT2-related limb-girdle muscular dystrophy R24

Adolescent, Infancy

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive

Childhood

POMT2-related limb-girdle muscular dystrophy R14

Autosomal recessive

Infancy

PPARG-associated congenital generalized lipodystrophy

Autosomal recessive

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

PRUNE1-related neurological syndrome

Autosomal recessive

Infancy, Neonatal

PTEN hamartoma tumor syndrome

Autosomal dominant

All ages

PUM1-associated developmental disability-ataxia-seizure syndrome

Autosomal dominant

Infancy, Neonatal