Rare Disease Library

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Aicardi syndrome

Agenesis of corpus callosum with chorioretinal abnormality

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts 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

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

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

Hydrocephaly-cerebellar agenesis syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

OBSOLETE: Ben Ari-Shuper-Mimouni syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly 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

X-linked lissencephaly with abnormal genitalia

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