neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1
MONDO:0975745Mondo
Findings
No curated finding names neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 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
- Congenital onset
HPO, annotations 2026-09-02
Features
38 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.
- Axial hypotoniaHPOHP:0008936
- 3 of 3 reported patients
- Brittle hairHPOHP:0002299
- 4 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- Full cheeksHPOHP:0000293
- 4 of 4 reported patients
- Hand tremorHPOHP:0002378
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- MyoclonusHPOHP:0001336
- 2 of 2 reported patients
- Narrow foreheadHPOHP:0000341
- 4 of 4 reported patients
- Pectus carinatumHPOHP:0000768
- 2 of 2 reported patients
Show the remaining 26
- Pes cavusHPOHP:0001761
- 2 of 2 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 3 reported patients
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 1 reported patient
- Sparse eyebrowHPOHP:0045075
- 4 of 4 reported patients
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.
- GTPBP1HGNC:4669
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025