Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the corpus callosum
HP:0007370
What it means
Absence or underdevelopment of the corpus callosum.
Rare diseases that can present with this70
Very common80–99%
10Common30–79%
23- 9q21.13microdeletion syndrome
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Christianson syndrome
- Diabetic embryopathy
- Distal duplication 14q syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- FG syndrome type 1
- Frontorhiny
- Holoprosencephaly
- Holoprosencephaly-postaxial polydactyly syndrome
- Holzgreve syndrome
- Jung syndrome
- Koolen-De Vries syndrome
- Lowry-MacLean syndrome
- Lujan-Fryns syndrome
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Oculocerebrocutaneous syndrome
- Oculo-palato-cerebral syndrome
- Pitt-Hopkins syndrome
- Pyruvate dehydrogenase deficiency
- Smith-Magenis syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Von Voss-Cherstvoy 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: Absent/hypoplastic corpus callosum · Agenesis/hypoplastic corpus callosum · Complete or partial absence of the corpus callosum · Hypoplasia or absence of the corpus callosum · Hypoplastic 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.