syndromic complex neurodevelopmental disorder
MONDO:0800439Mondo
Findings
No curated finding names syndromic complex neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.
Definition from the Mondo Disease Ontology (MONDO:0800439), read 2026-09-29. CC BY 4.0.
Genes
22 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.
- AFG2AHGNC:18119
- Definitive · ClinGen · Autosomal recessive · 2024
- ANKRD17HGNC:23575
- Definitive · ClinGen · Autosomal dominant · 2024
- ASH1LHGNC:19088
- Definitive · ClinGen · Autosomal dominant · 2023
- BRPF1HGNC:14255
- Definitive · ClinGen · Autosomal dominant · 2025
- MYT1LHGNC:7623
- Definitive · ClinGen · Autosomal dominant · 2020
- NFIBHGNC:7785
- Definitive · ClinGen · Autosomal dominant · 2024
- QRICH1HGNC:24713
- Definitive · ClinGen · Autosomal dominant · 2022
- SETD5HGNC:25566
- Definitive · ClinGen · Autosomal dominant · 2023
- TBCKHGNC:28261
- Definitive · ClinGen · Autosomal recessive · 2024
- TRA2BHGNC:10781
- Definitive · ClinGen · Autosomal dominant · 2026
- TRAF7HGNC:20456
- Definitive · ClinGen · Autosomal dominant · 2023
- TRPM3HGNC:17992
- Definitive · ClinGen · Autosomal dominant · 2024
- ZBTB11HGNC:16740
- Definitive · ClinGen · Autosomal recessive · 2026
- ZMYM2HGNC:12989
- Definitive · ClinGen · Autosomal dominant · 2025
- ZMYND11HGNC:16966
- Definitive · ClinGen · Autosomal dominant · 2024
- ZMYND8HGNC:9397
- Definitive · ClinGen · Autosomal dominant · 2026
- HGNC:10193HGNC:10193
- Strong · Broad Center for Mendelian Genomics · Autosomal dominant · 2024
- ZFHX3HGNC:777
- Strong · Broad Center for Mendelian Genomics · Autosomal dominant · 2024
- ZFHX4HGNC:30939
- Strong · ClinGen · Autosomal dominant · 2025
- FBRSL1HGNC:29308
- Moderate · Broad Center for Mendelian Genomics · Autosomal dominant · 2022
- PAN2HGNC:20074
- Moderate · ClinGen · Autosomal recessive · 2025
- THAP12HGNC:9440
- Limited · Broad Center for Mendelian Genomics · Autosomal recessive · 2024
Where it sits
- A kind of