Overlap myositis

Not applicable

Adult

Oxoglutaric aciduria

Autosomal recessive

Neonatal

PAGOD syndrome

Not applicable

Neonatal

PAICS deficiency

PANDAS

Not applicable

Childhood

PAPA syndrome

Autosomal dominant

Childhood

PAPASH syndrome

Adolescent, Adult

PARC syndrome

Autosomal dominant

Infancy, Neonatal

PASH syndrome

No data available

Adult

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

PDE4D haploinsufficiency syndrome

Unknown

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

PHACE syndrome

Unknown

Antenatal, Infancy, Neonatal

PHAVER syndrome

Autosomal recessive

Infancy, Neonatal

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

Autosomal dominant

Antenatal, Infancy, Neonatal