spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
MONDO:0014725Mondo
Findings
No curated finding names spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 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
47 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
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- Thin corpus callosumHPOHP:0033725
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Brain atrophyHPOHP:0012444
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
Show the remaining 35
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Primary microcephalyHPOHP:0011451
- Frequent (30% to 79% of cases)
- Secondary microcephalyHPOHP:0005484
- Frequent (30% to 79% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 2 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.
- SLC1A4HGNC:10942
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Also called
- ASCT1 deficiencyspastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome