infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
MONDO:0032685Mondo
Findings
No curated finding names infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 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
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- AgitationHPOHP:0000713
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- KyphoscoliosisHPOHP:0002751
- 1 of 1 reported patient
- ParakeratosisHPOHP:0001036
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
- Secondary microcephalyHPOHP:0005484
- 1 of 1 reported patient
- Self-injurious behaviorHPOHP:0100716
- 1 of 1 reported patient
- Subcutaneous noduleHPOHP:0001482
- 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.
- GLSHGNC:4331
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of