Pelizaeus-Merzbacher disease, connatal form

X-linked recessive

Infancy, Neonatal

Pelizaeus-Merzbacher disease, transitional form

X-linked recessive

Infancy, Neonatal

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

Autosomal recessive

Infancy, Neonatal

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

Autosomal recessive

Infancy, Neonatal

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Autosomal recessive

Infancy, Neonatal

Perinatal lethal hypophosphatasia

Autosomal recessive

Antenatal, Neonatal

Periventricular nodular heterotopia

Autosomal dominant, Autosomal recessive, X-linked dominant

Childhood

Perrault syndrome type 1

Perrault syndrome type 2

Pfeiffer syndrome type 1

Autosomal dominant, Not applicable

Antenatal, Neonatal

Pfeiffer syndrome type 2

Autosomal dominant, Not applicable

Antenatal, Neonatal

Pfeiffer syndrome type 3

Autosomal dominant, Not applicable

Antenatal, Neonatal

Phakomatosis cesioflammea

Not applicable

Phakomatosis cesiomarmorata

Not applicable

Phakomatosis spilorosea

Not applicable

Plaque-form urticaria pigmentosa

Autosomal dominant, Unknown

Pleomorphic rhabdomyosarcoma

Not applicable

Adolescent, Adult, Childhood, Elderly, Infancy

Polyostotic fibrous dysplasia

Unknown

Prenatal benign hypophosphatasia

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Primary hyperoxaluria type 1

Autosomal recessive

All ages

Primary hyperoxaluria type 2

Autosomal recessive

Childhood

Primary hyperoxaluria type 3

Autosomal recessive

Childhood, Infancy

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Autosomal recessive

Childhood

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Autosomal recessive

Childhood