Cerebellar ataxia-ectodermal dysplasia syndrome

Autosomal recessive

Neonatal

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

Autosomal dominant

Neonatal

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Infancy

Cerebellar-facial-dental syndrome

Autosomal recessive

Antenatal, Neonatal

Cerebrocostomandibular syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Neonatal

Cerebrofacioarticular syndrome

Autosomal recessive

Infancy, Neonatal

Cerebrofaciothoracic dysplasia

Autosomal recessive

Antenatal, Neonatal

Cerebrooculonasal syndrome

Autosomal dominant

Antenatal, Neonatal

Char syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Autosomal recessive

Infancy

Charlie M syndrome

Not applicable

Neonatal

Cherubism

Autosomal dominant, Autosomal recessive, Not applicable

Childhood

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Autosomal dominant

Neonatal

Chondrodysplasia punctata, Toriello type

Autosomal recessive

Neonatal

Chondrodysplasia punctata, tibial-metacarpal type

Unknown

Antenatal, Neonatal

Chondrodysplasia with joint dislocations, gPAPP type

Autosomal recessive

Infancy, Neonatal

Chondrodysplasia-difference of sex development syndrome

Autosomal recessive

Antenatal, Neonatal

Choroidal atrophy-alopecia syndrome

Unknown

Neonatal

Christianson syndrome

X-linked recessive

Infancy, Neonatal

Chromosome Y microdeletion syndrome

Not applicable, Y-linked

Adult

Chudley-McCullough syndrome

Autosomal recessive

Infancy, Neonatal

Clark-Baraitser syndrome

Childhood, Infancy, Neonatal

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Autosomal recessive

Neonatal

Cleft lip/palate-deafness-sacral lipoma syndrome

Unknown

Infancy, Neonatal