Rare Disease Library

Vici syndrome

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

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

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

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

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Immunodeficiency syndrome with autoimmunity

Isolated corpus callosum agenesis

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Syndrome with combined immunodeficiency

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

X-linked lissencephaly with abnormal genitalia

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