craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
MONDO:0031329Mondo
Findings
No curated finding names craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- TMCO1HGNC:18188
- Definitive · Illumina · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of