Cone rod dystrophy-short stature syndrome

Autosomal recessive

Childhood

Confetti-like macular atrophy

Adult

Congenital Epstein-Barr virus infection

Not applicable

Infancy, Neonatal

Congenital abducens nerve palsy

Not applicable

Neonatal

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Autosomal recessive

Infancy, Neonatal

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Autosomal recessive

Infancy, Neonatal

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Autosomal recessive

Infancy, Neonatal

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Autosomal recessive

Infancy, Neonatal

Congenital alpha2-antiplasmin deficiency

Autosomal recessive

Childhood

Congenital alveolar capillary dysplasia

Autosomal dominant

Infancy, Neonatal

Congenital amegakaryocytic thrombocytopenia

Autosomal recessive

Neonatal

Congenital analbuminemia

Autosomal recessive

Antenatal, Infancy, Neonatal

Congenital atransferrinemia

Autosomal recessive

Childhood, Infancy

Congenital autosomal recessive small-platelet thrombocytopenia

Autosomal recessive

Neonatal

Congenital axonal neuropathy with encephalopathy

Neonatal

Congenital bile acid synthesis defect type 1

Autosomal recessive

Infancy, Neonatal

Congenital bile acid synthesis defect type 2

Autosomal recessive

Infancy, Neonatal

Congenital bile acid synthesis defect type 3

Autosomal recessive

Infancy, Neonatal

Congenital bile acid synthesis defect type 4

Autosomal recessive

All ages

Congenital brain dysgenesis due to glutamine synthetase deficiency

Autosomal recessive

Infancy, Neonatal

Congenital cataract-hearing loss-severe developmental delay syndrome

Autosomal recessive

Infancy, Neonatal

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Autosomal recessive

Infancy, Neonatal

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Autosomal recessive

Infancy, Neonatal

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Autosomal recessive

Neonatal