Crouzon syndrome-acanthosis nigricans syndrome

Autosomal dominant, Not applicable

Antenatal, Neonatal

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Autosomal dominant

Neonatal

Cryptorchidism-arachnodactyly-intellectual disability syndrome

Infancy, Neonatal

Currarino syndrome

Autosomal dominant, Not applicable

All ages

Curry-Jones syndrome

Not applicable

Neonatal

Cutaneous mastocytosis-deafness-microtia syndrome

Autosomal recessive

Infancy, Neonatal

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Autosomal dominant

Antenatal, Neonatal

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Autosomal recessive

Neonatal

Cutis laxa-Marfanoid syndrome

Infancy, Neonatal

Cutis marmorata telangiectatica congenita

Not applicable

Neonatal

Cyprus facial-neuromusculoskeletal syndrome

Autosomal dominant

Antenatal, Neonatal

Czeizel-Losonci syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

DNMT3A-related microcephalic dwarfism

Autosomal dominant

Antenatal, Neonatal

DONSON-related microcephaly-short stature-limb abnormalities spectrum

Autosomal recessive

Antenatal, Neonatal

DOORS syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

DYRK1A-related intellectual disability syndrome

Autosomal dominant, Not applicable, Unknown

Infancy

Dahlberg-Borer-Newcomer syndrome

Autosomal recessive, X-linked recessive

Childhood

Dandy-Walker malformation-postaxial polydactyly syndrome

Autosomal recessive

Antenatal, Neonatal

Deaf blind hypopigmentation syndrome, Yemenite type

Autosomal recessive

Infancy, Neonatal

Deafness with labyrinthine aplasia, microtia, and microdontia

Autosomal recessive

Infancy, Neonatal

Deafness-craniofacial syndrome

Neonatal

Deafness-ear malformation-facial palsy syndrome

Neonatal

Deafness-enamel hypoplasia-nail defects syndrome

Autosomal recessive

Childhood

Deafness-epiphyseal dysplasia-short stature syndrome

Neonatal