Congenital lactase deficiency

Autosomal recessive

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Autosomal recessive

Infancy, Neonatal

Congenital lethal erythroderma

Autosomal recessive

Neonatal

Congenital lethal myopathy, Compton-North type

Autosomal recessive

Antenatal, Neonatal

Congenital lipoid adrenal hyperplasia due to STAR deficency

Autosomal recessive

Childhood, Infancy, Neonatal

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Autosomal recessive

Antenatal, Neonatal

Congenital mesoblastic nephroma

Infancy, Neonatal

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy due to LMNA mutation

Autosomal dominant

Infancy, Neonatal

Congenital muscular dystrophy type 1B

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy with cerebellar involvement

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy with hyperlaxity

Neonatal

Congenital muscular dystrophy with integrin alpha-7 deficiency

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy with intellectual disability

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy without intellectual disability

Autosomal recessive

Infancy, Neonatal

Congenital muscular dystrophy-cataract-intellectual disability syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Autosomal recessive

Neonatal

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Autosomal recessive

Neonatal

Congenital myasthenic syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Congenital myopathy with excess of thin filaments

Autosomal dominant

Congenital myopathy with internal nuclei and atypical cores

Autosomal dominant

Neonatal

Congenital myopathy with myasthenic-like onset

Autosomal recessive

Infancy, Neonatal

Congenital myopathy with reduced type 2 muscle fibers

Autosomal recessive

Antenatal, Neonatal