CDKL5-deficiency disorder

X-linked dominant

Infancy, Neonatal

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

Autosomal recessive

Adolescent, Neonatal

CEDNIK syndrome

Autosomal recessive

Infancy, Neonatal

CELSR1-related late-onset primary lymphedema

Autosomal dominant

Adolescent, Childhood, Infancy, Neonatal

CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome

Autosomal dominant

Childhood, Infancy

CHAND syndrome

Autosomal recessive

Neonatal

CHARGE syndrome

Autosomal dominant, Unknown

Antenatal, Neonatal

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Autosomal dominant

Infancy, Neonatal

CHD4-related neurodevelopmental disorder

Autosomal dominant

Childhood, Infancy

CHD8 overgrowth syndrome

Autosomal dominant

No data available

CHILD syndrome

X-linked dominant

Antenatal, Infancy, Neonatal

CHIME syndrome

Autosomal recessive

Childhood

CHST3-related skeletal dysplasia

Autosomal recessive

Antenatal, Neonatal

CIDEC-related familial partial lipodystrophy

Autosomal recessive

Adolescent

CINCA syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

CK syndrome

X-linked recessive

Infancy, Neonatal

CLAPO syndrome

Unknown

Antenatal, Infancy, Neonatal

CLCN4-related X-linked intellectual disability syndrome

X-linked dominant

Childhood, Infancy

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Autosomal dominant

Infancy

CLIPPERS

Not applicable

Adult

CLN1 disease

Autosomal recessive

Infancy

CLN10 disease

Autosomal recessive

Adult, Antenatal, Infancy

CLN11 disease

Adolescent, Infancy

CLN12 disease

Autosomal recessive

Childhood