Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

Autosomal recessive

Infancy, Neonatal

Pyridoxine-dependent-developmental and epileptic encephalopathy

Autosomal recessive

Antenatal, Infancy, Neonatal

Pyruvate carboxylase deficiency

Autosomal recessive, Not applicable

Infancy, Neonatal

Pyruvate carboxylase deficiency, benign type

Autosomal recessive

Infancy

Pyruvate carboxylase deficiency, infantile type

Autosomal recessive

Infancy

Pyruvate carboxylase deficiency, severe neonatal type

Autosomal recessive

Infancy, Neonatal

Pyruvate dehydrogenase E1-alpha deficiency

X-linked dominant

Infancy, Neonatal

Pyruvate dehydrogenase E1-beta deficiency

Autosomal recessive

Childhood

Pyruvate dehydrogenase E2 deficiency

Autosomal recessive

Childhood

Pyruvate dehydrogenase E3 deficiency

Autosomal recessive

Childhood

Pyruvate dehydrogenase E3-binding protein deficiency

Autosomal recessive

Infancy, Neonatal

Pyruvate dehydrogenase deficiency

Autosomal recessive, Not applicable, X-linked dominant

Childhood, Infancy, Neonatal

Pyruvate dehydrogenase phosphatase deficiency

Autosomal recessive

Infancy, Neonatal

Q fever

Not applicable

All ages

QRICH1-related intellectual disability-chondrodysplasia syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

QRSL1-related combined oxidative phosphorylation defect

Autosomal recessive

Antenatal, Infancy, Neonatal

Qazi-Markouizos syndrome

Infancy, Neonatal

Quebec platelet disorder

Autosomal dominant

Adult

Quinquaud folliculitis decalvans

Not applicable

Adult

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

Autosomal dominant, Autosomal recessive

Infancy

RAPADILINO syndrome

Autosomal recessive

Infancy, Neonatal

RARS-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive

Infancy, Neonatal

RAS-associated autoimmune leukoproliferative disease

Unknown

Childhood, Infancy

RASA1-related capillary malformation-arteriovenous malformation

Autosomal dominant