Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Autosomal dominant

All ages

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Autosomal recessive

Infancy, Neonatal

Progressive supranuclear palsy

Not applicable

Adult, Elderly

Progressive supranuclear palsy-corticobasal syndrome

Not applicable

Adult

Progressive supranuclear palsy-predominant parkinsonism syndrome

Not applicable

Adult

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

Not applicable

Adult

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

Not applicable

Adult

Progressive symmetric erythrokeratodermia

Autosomal dominant

Infancy, Neonatal

Prolactinoma

Autosomal dominant

Adolescent, Adult, Childhood, Elderly

Prolidase deficiency

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Proliferating trichilemmal cyst

Adult

Prominent glabella-microcephaly-hypogenitalism syndrome

Antenatal, Neonatal

Properdin deficiency

X-linked recessive

Propionic acidemia

Autosomal recessive

Infancy, Neonatal

Propylthiouracil embryofetopathy

Antenatal, Infancy, Neonatal

Proteasome-associated autoinflammatory syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

Protein S acquired deficiency

Not applicable

Proteus syndrome

Not applicable

Infancy

Proteus-like syndrome

Autosomal dominant

Infancy, Neonatal

Protoplasmic astrocytoma

Not applicable

Childhood

Protracted juvenile CLN3 disease

Autosomal recessive

Proximal 16p11.2 microdeletion syndrome

Autosomal dominant, Not applicable

Childhood

Proximal 16p11.2 microduplication syndrome

Infancy, Neonatal

Proximal Xq28 duplication syndrome

Antenatal, Neonatal