Rare diseases · Sign or symptom
Agenesis of corpus callosum
HP:0001274
What it means
Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
Rare diseases that can present with this138
Very common80–99%
22- 1p36deletion syndrome
- 1q44microdeletion syndrome
- 3q13microdeletion syndrome
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Acromelic frontonasal dysplasia
- Agnathia-holoprosencephaly-situs inversus syndrome
- Alexander disease
- Corpus callosum agenesis-abnormal genitalia syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- Corpus callosum agenesis-neuronopathy syndrome
- Desmosterolosis
- Duplication of the pituitary gland
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Hydrolethalus
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Isolated corpus callosum agenesis
- Maternal uniparental disomy of chromosome X syndrome
- Oculoectodermal syndrome
- Vici syndrome
- X-linked lissencephaly with abnormal genitalia
- X-linked neurodegenerative syndrome, Bertini type
Common30–79%
40- 14q22q23microdeletion syndrome
- 6q25.2q25.3microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- Amish lethal microcephaly
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Apert syndrome
- Autosomal recessive primary microcephaly
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Bohring-Opitz syndrome
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Cloverleaf skull-multiple congenital anomalies syndrome
- Craniotelencephalic dysplasia
- Curry-Jones syndrome
- Encephalocraniocutaneous lipomatosis
- FOXG1 syndrome due to 14q12 microdeletion
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- Fryns syndrome
- Genitopatellar syndrome
- Houge-Janssens syndrome type 2
- Infantile osteopetrosis with neuroaxonal dysplasia
- Isolated exencephaly
- Lissencephaly due to TUBA1A mutation
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
- Pancreatic agenesis-holoprosencephaly syndrome
- Polymicrogyria with optic nerve hypoplasia
- Pyruvate dehydrogenase E1-beta deficiency
- Septo-optic dysplasia spectrum
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Tetraamelia-multiple malformations syndrome
- Thakker-Donnai syndrome
- Toriello-Carey syndrome
- Trisomy 8p syndrome
- Walker-Warburg syndrome
- Yunis-Varon syndrome
Sometimes5–29%
18- 15q overgrowth syndrome
- 16p13.11microdeletion syndrome
- 1q21.1microdeletion syndrome
- 21q22.11q22.12microdeletion syndrome
- 4q21microdeletion syndrome
- Alobar holoprosencephaly
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- Basel-Vanagaite-Smirin-Yosef syndrome
and 10 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absence of corpus callosum · Absent corpus callosum · Agenesis of the corpus callosum · Callosal agenesis · Corpus callosum agenesis · Dysplastic or absent corpus callosum
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.