Rare Disease Library

Temtamy syndrome

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

Burn-McKeown syndrome

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

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

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness 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

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

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

Gingival fibromatosis-facial dysmorphism syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Houge-Janssens syndrome type 2

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Syndrome with corpus callosum agenesis/dysgenesis as a major feature

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