Rare diseases · Sign or symptom
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
HP:0002079
What it means
Underdevelopment of the corpus callosum.
The corpus callosum appears thin in midline views of the brain in neuroradiological images.
Rare diseases that can present with this179
Very common80–99%
13- 6q terminal deletion syndrome
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 48
- Cerebrofaciothoracic dysplasia
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Glycine encephalopathy
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Kjellin syndrome
- Microlissencephaly
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- Xq12-q13.3 duplication syndrome
Common30–79%
62- 16q24.3microdeletion syndrome
- 5q14.3microdeletion syndrome
- Aicardi-Goutières syndrome
- Angelman syndrome due to maternal 15q11q13 deletion
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 32
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 54
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 66
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 78
- Autosomal spastic paraplegia type 18
- Bohring-Opitz syndrome
- Cerebellar-facial-dental syndrome
- COG2-CDG
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Fatty acid hydroxylase-associated neurodegeneration
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Houge-Janssens syndrome type 2
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Malan overgrowth syndrome
- MEND syndrome
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Microcephaly-thin corpus callosum-intellectual disability 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
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Optic atrophy-intellectual disability syndrome
- Orofaciodigital syndrome type 14
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
- PLAA-associated neurodevelopmental disorder
- Pontocerebellar hypoplasia type 7
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Pyridoxine-dependent-developmental and epileptic encephalopathy
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- RNF13-related severe early-onset epileptic encephalopathy
- Roifman syndrome
- S-adenosylhomocysteine hydrolase deficiency
- Schinzel-Giedion syndrome
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Takenouchi-Kosaki syndrome
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
- Tremor-ataxia-central hypomyelination syndrome
- VPS11-related autosomal recessive hypomyelinating leukodystrophy
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- X-linked intellectual disability, Cantagrel type
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
- Xq25microduplication syndrome
- ZTTK syndrome
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: Corpus callosum hypoplasia · Hypoplasia of corpus callosum · Hypoplastic corpus callosum
Hypoplasia of the 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.