skeletal defects, genital hypoplasia, and intellectual disability
MONDO:0012909Mondo
Findings
No curated finding names skeletal defects, genital hypoplasia, and intellectual disability 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.
- ZBTB16HGNC:12930
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
1 name
Resolves to: skeletal defects, genital hypoplasia, and intellectual disability
- Also called
- skeletal defects, genital hypoplasia, and mental retardation