neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
MONDO:0976125Mondo
Findings
No curated finding names neurodevelopmental disorder with speech or visual impairment and brain hypomyelination yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
45 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.
- Abnormal pyramidal signHPOHP:0007256
- 4 of 4 reported patients
- Abnormal talus morphologyHPOHP:0008365
- 1 of 1 reported patient
- Abnormality of movementHPOHP:0100022
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- CNS hypomyelinationHPOHP:0003429
- 3 of 3 reported patients
Show the remaining 33
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCT3HGNC:1616
- Moderate · G2P · Autosomal dominant · 2025