Rare Disease Library

Toriello-Carey syndrome

Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia 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

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Syndrome with corpus callosum agenesis/dysgenesis as a major feature

Temtamy syndrome

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