neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
MONDO:0859266Mondo
Findings
No curated finding names neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 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
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Progressive spasticityHPOHP:0002191
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Short corpus callosumHPOHP:0200012
- 1 of 1 reported patient
Show the remaining 3
- Small posterior fossaHPOHP:0040010
- 1 of 1 reported patient
- Talipes equinovarusHPOHP:0001762
- 1 of 1 reported patient
- Tented upper lip vermilionHPOHP:0010804
- 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.
- TAF8HGNC:17300
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2022