developmental delay with short stature, dysmorphic facial features, and sparse hair
MONDO:0031632Mondo
Findings
No curated finding names developmental delay with short stature, dysmorphic facial features, and sparse hair 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.
- DPH1HGNC:3003
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of