multiple congenital anomalies/dysmorphic syndrome
MONDO:0019042Mondo
Findings
No curated finding names multiple congenital anomalies/dysmorphic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
34 genes
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.
- PDIA6HGNC:30168
- Strong · PanelApp Australia · Autosomal recessive · 2025
- UBA2HGNC:30661
- Strong · Ambry Genetics · Autosomal dominant · 2021
- WNT7BHGNC:12787
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- BMP7HGNC:1074
- Moderate · Ambry Genetics · Autosomal dominant · 2016
- ISLR2HGNC:29286
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- NUDCD2HGNC:30535
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- OTUD5HGNC:25402
- Moderate · Ambry Genetics · X-linked · 2021
- PRDM15HGNC:13999
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- SEMA3AHGNC:10723
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- AAR2HGNC:15886
- Limited · Ambry Genetics · Autosomal recessive · 2018
- ARHGAP35HGNC:4591
- Limited · Ambry Genetics · Autosomal dominant · 2025
- BAZ1AHGNC:960
- Limited · Ambry Genetics · Autosomal dominant · 2020
- BRD4HGNC:13575
- Limited · Ambry Genetics · Autosomal dominant · 2018
- C16orf90HGNC:34455
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CDH4HGNC:1763
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CLTCL1HGNC:2093
- Limited · Ambry Genetics · Autosomal dominant · 2020
- HGNC:17754HGNC:17754
- Limited · Ambry Genetics · Autosomal recessive · 2018
- KAT14HGNC:15904
- Limited · Ambry Genetics · Autosomal recessive · 2024
- KCTD10HGNC:23236
- Limited · Ambry Genetics · Autosomal dominant · 2025
- KIF26BHGNC:25484
- Limited · PanelApp Australia · Autosomal dominant · 2025
- MMP15HGNC:7161
- Limited · LiferaOmics · Autosomal recessive · 2026
- NTN1HGNC:8029
- Limited · Ambry Genetics · Autosomal dominant · 2025
- OSBPL9HGNC:16386
- Limited · Ambry Genetics · Autosomal recessive · 2025
- PHF10HGNC:18250
- Limited · LiferaOmics · Autosomal recessive · 2026
- RARAHGNC:9864
- Limited · Ambry Genetics · Autosomal dominant · 2019
- SLC35F5HGNC:23617
- Limited · Ambry Genetics · Autosomal recessive · 2018
- SPTBN5HGNC:15680
- Limited · LiferaOmics · Autosomal recessive · 2026
- SREBF2HGNC:11290
- Limited · Ambry Genetics · Autosomal dominant · 2025
- SYDE2HGNC:25841
- Limited · Ambry Genetics · Autosomal recessive · 2018
- TFAP2EHGNC:30774
- Limited · Ambry Genetics · Autosomal dominant · 2025
- UBE4AHGNC:12499
- Limited · Ambry Genetics · Autosomal recessive · 2018
- ZMYM5HGNC:13029
- Limited · Ambry Genetics · Autosomal recessive · 2018
- ZNF3HGNC:13089
- Limited · PanelApp Australia · Autosomal recessive · 2025
- ZYG11BHGNC:25820
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
- Narrower terms (5)
- multiple congenital anomalies due to 14q32.2 imprinting defect
- multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- NR2F2 related multiple congenital anomalies/dysmorphic syndrome