Primary unilateral adrenal hyperplasia

Not applicable

All ages

Primitive neuroectodermal tumor of the cervix uteri

Adult

Proboscis lateralis

Not applicable

Antenatal, Infancy, Neonatal

Progeria-short stature-pigmented nevi syndrome

Unknown

Infancy, Neonatal

Progeroid and marfanoid aspect-lipodystrophy syndrome

Autosomal dominant

Infancy, Neonatal

Progeroid features-hepatocellular carcinoma predisposition syndrome

Autosomal recessive

Adolescent, Childhood

Progeroid syndrome, Petty type

Autosomal dominant

Neonatal

Progressive autosomal recessive ataxia-deafness syndrome

Autosomal recessive

Adolescent, Childhood, Infancy

Progressive bifocal chorioretinal atrophy

Autosomal dominant

Infancy, Neonatal

Progressive cavitating leukoencephalopathy

Autosomal recessive

Childhood, Infancy

Progressive cerebello-cerebral atrophy

Autosomal recessive

Infancy, Neonatal

Progressive cone dystrophy

Autosomal dominant, Autosomal recessive

Adult

Progressive deafness with stapes fixation

Autosomal recessive

Childhood

Progressive dementia with neuroserpin inclusion bodies

Autosomal dominant

Adult, Elderly

Progressive encephalomyelitis with rigidity and myoclonus

Not applicable

Adult, Infancy

Progressive encephalopathy with leukodystrophy due to DECR deficiency

Autosomal recessive

Infancy, Neonatal

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Autosomal recessive

Infancy, Neonatal

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Autosomal recessive

Adolescent, Adult

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Autosomal recessive

All ages

Progressive familial intrahepatic cholestasis

Autosomal recessive

Adolescent, Childhood, Infancy, Neonatal

Progressive familial intrahepatic cholestasis type 1

Autosomal recessive

Infancy, Neonatal

Progressive familial intrahepatic cholestasis type 2

Autosomal recessive

Infancy, Neonatal

Progressive familial intrahepatic cholestasis type 3

Autosomal recessive

All ages

Progressive familial intrahepatic cholestasis type 4

Autosomal recessive

Childhood, Infancy