PASS syndrome

Adult

PBX1-related congenital anomalies of kidney-urinary tract syndrome

Autosomal dominant

PCDH19 clustering epilepsy

X-linked dominant

PCNA-related progressive neurodegenerative photosensitivity syndrome

Autosomal recessive

Infancy, Neonatal

PEHO syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

PEHO-like syndrome

Autosomal recessive

Infancy, Neonatal

PENS syndrome

Not applicable

Infancy, Neonatal

PERCC1-related congenital intractable malabsorptive diarrhea

Autosomal recessive

PFAPA syndrome

Unknown

Childhood, Infancy

PGM1-CDG

Autosomal recessive

Infancy, Neonatal

PGM3-CDG

Autosomal recessive

Childhood, Infancy, Neonatal

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

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

Autosomal recessive

Antenatal, Childhood, 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

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

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