neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language
MONDO:0976263Mondo
Findings
No curated finding names neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 7 of 7 reported patients
- Appendicular hypotoniaHPOHP:0012389
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 4 of 4 reported patients
- Babinski signHPOHP:0003487
- 3 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Developmental stagnationHPOHP:0007281
- 1 of 1 reported patient
Show the remaining 34
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Generalized-onset seizureHPOHP:0002197
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients