Rare Disease Library

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Corpus callosum dysgenesis-hypopituitarism syndrome

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

Greig cephalopolysyndactyly syndrome

GCPS

Greig cephalopolysyndactyly-contiguous gene syndrome

GCP-CGS

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

Isolated corpus callosum agenesis

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Sclerosteosis

Cortical hyperostosis-syndactyly syndrome

Syndactyly-polydactyly-ear lobe syndrome

Syndrome with corpus callosum agenesis/dysgenesis as a major feature

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome

Toriello-Carey syndrome

Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Curatolo-Cilio-Pessagno syndrome

X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome