neurodevelopmental disorder
MONDO:0700092Mondo
Findings
No curated finding names neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.
Definition from the Mondo Disease Ontology (MONDO:0700092), read 2026-09-29. CC BY 4.0.
Genes
312 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.
- ARHGAP35HGNC:4591
- Definitive · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- CELF4HGNC:14015
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- GSK3BHGNC:4617
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- KCNQ3HGNC:6297
- Definitive · G2P · Autosomal dominant · 2016
- MED12HGNC:11957
- Definitive · G2P · X-linked · 2022
- NONOHGNC:7871
- Definitive · Ambry Genetics · X-linked · 2025
- SMARCA1HGNC:11097
- Definitive · Ambry Genetics · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
- TCF7L2HGNC:11641
- Definitive · G2P · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- UBR5HGNC:16806
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- ZFHX4HGNC:30939
- Definitive · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Broad Center for Mendelian Genomics · Autosomal dominant · 2019
- ACTL6AHGNC:24124
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ADCY5HGNC:236
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Semidominant · 2025
- ADD1HGNC:243
- Strong · PanelApp Australia · Semidominant · 2025
- AGMOHGNC:33784
- Strong · PanelApp Australia · Autosomal recessive · 2025
- AJAP1HGNC:30801
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ANK3HGNC:494
- Strong · PanelApp Australia · Semidominant · 2025
- ANO4HGNC:23837
- Strong · PanelApp Australia · Autosomal dominant · 2025
- AP1G1HGNC:555
- Strong · PanelApp Australia · Semidominant · 2025
- AP2S1HGNC:565
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- ARF3HGNC:654
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2023
- ARXHGNC:18060
- Strong · PanelApp Australia · X-linked · 2025
- ATG4DHGNC:20789
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2023
- ATP1A1HGNC:799
- Strong · Ambry Genetics · Autosomal dominant · 2025
- ATP2B2HGNC:815
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ATP6V0A1HGNC:865
- Strong · PanelApp Australia · Semidominant · 2025
- ATP6V1B2HGNC:854
- Strong · Ambry Genetics · Autosomal dominant · 2025
- BAZ2BHGNC:963
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2024
- BHLHE22HGNC:11963
- Strong · PanelApp Australia · Autosomal dominant · 2025
- BICD2HGNC:17208
- Strong · PanelApp Australia · Autosomal dominant · 2025
- BLOC1S1HGNC:4200
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
- BRSK2HGNC:11405
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- CTNND2HGNC:2516
- Strong · G2P · Autosomal dominant · 2020
- DDX17HGNC:2740
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- DDX23HGNC:17347
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- DENND5BHGNC:28338
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- DIP2CHGNC:29150
- Strong · PanelApp Australia · Autosomal dominant · 2025
- DMAP1HGNC:18291
- Strong · PanelApp Australia · Autosomal recessive · 2025
- DOT1LHGNC:24948
- Strong · PanelApp Australia · Autosomal dominant · 2025
- EEF1B2HGNC:3208
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025
- EEF1DHGNC:3211
- Strong · PanelApp Australia · Autosomal recessive · 2025
- EEFSECHGNC:24614
- Strong · PanelApp Australia · Autosomal recessive · 2025
- EMC10HGNC:27609
- Strong · G2P · Autosomal recessive · 2021
- ENTPD1HGNC:3363
- Strong · G2P · Autosomal recessive · 2026
- EZH1HGNC:3526
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal dominant · 2025
- Moderate · G2P · Autosomal recessive · 2025
- FEM1CHGNC:16933
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2026
- FEZF2HGNC:13506
- Strong · PanelApp Australia · Autosomal dominant · 2025
- FSD1LHGNC:13753
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GABRA4HGNC:4078
- Strong · PanelApp Australia · Autosomal dominant · 2025
- GATAD2AHGNC:29989
- Strong · PanelApp Australia · Autosomal dominant · 2025
- GPATCH11HGNC:26768
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GTF3C3HGNC:4666
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GTF3C5HGNC:4668
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HCN2HGNC:4846
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- HDAC3HGNC:4854
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- HGNC:10152HGNC:10152
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HGNC:10212HGNC:10212
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HGNC:31814HGNC:31814
- Strong · PanelApp Australia · Autosomal recessive · 2025
- HIRAHGNC:4916
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2021
- HMGB1HGNC:4983
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HNRNPH1HGNC:5041
- Strong · G2P · Autosomal dominant · 2020
- IMPDH2HGNC:6053
- Strong · PanelApp Australia · Autosomal dominant · 2025
- INPP4AHGNC:6074
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ITFG2HGNC:30879
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ITSN1HGNC:6183
- Strong · PanelApp Australia · Autosomal dominant · 2025
- KBTBD2HGNC:21751
- Strong · PanelApp Australia · Autosomal recessive · 2025
- KCNA3HGNC:6221
- Strong · PanelApp Australia · Autosomal dominant · 2025
- KCNB2HGNC:6232
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · G2P · Autosomal dominant · 2026
- KCND1HGNC:6237
- Strong · PanelApp Australia · X-linked · 2025
- KCND2HGNC:6238
- Strong · PanelApp Australia · Autosomal dominant · 2025
- KCND3HGNC:6239
- Strong · G2P · Autosomal dominant · 2025
- KCNK3HGNC:6278
- Strong · PanelApp Australia · Autosomal dominant · 2025
- KCTD3HGNC:21305
- Strong · PanelApp Australia · Autosomal recessive · 2025
- KDM2AHGNC:13606
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2026
- KDM2BHGNC:13610
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2023
- KDM5BHGNC:18039
- Strong · PanelApp Australia · Semidominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- KIF21BHGNC:29442
- Strong · PanelApp Australia · Autosomal dominant · 2025
- KLF7HGNC:6350
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2026
- KLHL20HGNC:25056
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · LiferaOmics · Autosomal recessive · 2026
- KMT2CHGNC:13726
- Strong · PanelApp Australia · Autosomal dominant · 2025
- LARP1HGNC:29531
- Strong · PanelApp Australia · Autosomal dominant · 2025
- LGI3HGNC:18711
- Strong · PanelApp Australia · Autosomal recessive · 2025
- LHX2HGNC:6594
- Strong · PanelApp Australia · Autosomal dominant · 2025
- LRRC7HGNC:18531
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MAPK1HGNC:6871
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MARK2HGNC:3332
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MAST4HGNC:19037
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MCM6HGNC:6949
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MED12LHGNC:16050
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MYCBP2HGNC:23386
- Strong · PanelApp Australia · Autosomal dominant · 2025
- MYCNHGNC:7559
- Strong · PanelApp Australia · Autosomal dominant · 2025
- NAV3HGNC:15998
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- NCKAP1HGNC:7666
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
- NR4A2HGNC:7981
- Strong · G2P · Autosomal dominant · 2025
- NSD2HGNC:12766
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
- PABPC1HGNC:8554
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PALS1HGNC:18669
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PARP6HGNC:26921
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PAX5HGNC:8619
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Broad Center for Mendelian Genomics · Autosomal dominant · 2021
- PCBP2HGNC:8648
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PHF12HGNC:20816
- Strong · G2P · Autosomal dominant · 2025
- PHF5AHGNC:18000
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PLK1HGNC:9077
- Strong · PanelApp Australia · Autosomal recessive · 2025
- POLR3BHGNC:30348
- Strong · G2P · Autosomal dominant · 2021
- POU3F2HGNC:9215
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PPFIBP1HGNC:9249
- Strong · G2P · Autosomal recessive · 2022
- PPP1R3FHGNC:14944
- Strong · PanelApp Australia · X-linked · 2025
- PRPF19HGNC:17896
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PRPF8HGNC:17340
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- PSMC3HGNC:9549
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2023
- PSMC5HGNC:9552
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- PSMD11HGNC:9556
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PTPN4HGNC:9656
- Strong · PanelApp Australia · Autosomal dominant · 2025
- RAB11AHGNC:9760
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- RAB5CHGNC:9785
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2026
- RABGAP1HGNC:17155
- Strong · PanelApp Australia · Autosomal recessive · 2025
- RALGAPBHGNC:29221
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- RBBP5HGNC:9888
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- RBFOX1HGNC:18222
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2020
- RFX3HGNC:9984
- Strong · PanelApp Australia · Autosomal dominant · 2025
- RFX4HGNC:9985
- Strong · PanelApp Australia · Autosomal dominant · 2025
- RICTORHGNC:28611
- Strong · PanelApp Australia · Autosomal dominant · 2025
- RPH3AHGNC:17056
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
- RUNX1T1HGNC:1535
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
- SARS1HGNC:10537
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal dominant · 2025
- SART3HGNC:16860
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SCAMP5HGNC:30386
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SCAPERHGNC:13081
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SEL1LHGNC:10717
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SEPHS1HGNC:19685
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- SETD1AHGNC:29010
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SGSM3HGNC:25228
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
- SHANK1HGNC:15474
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SIN3BHGNC:19354
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SLC12A9HGNC:17435
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SMARCA5HGNC:11101
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SMARCD1HGNC:11106
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SNAP25HGNC:11132
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SNX27HGNC:20073
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SP9HGNC:30690
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SPASTHGNC:11233
- Strong · G2P · Autosomal dominant · 2025
- SPOPHGNC:11254
- Strong · PanelApp Australia · Autosomal dominant · 2025
- STX1AHGNC:11433
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2023
- SUFUHGNC:16466
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2021
- SYNCRIPHGNC:16918
- Strong · PanelApp Australia · Autosomal dominant · 2025
- TAOK2HGNC:16835
- Strong · PanelApp Australia · Autosomal dominant · 2025
- TCP1HGNC:11655
- Strong · Ambry Genetics · Autosomal dominant · 2024
- TMX2HGNC:30739
- Strong · PanelApp Australia · Autosomal recessive · 2025
- TRA2BHGNC:10781
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2023
- UNC13AHGNC:23150
- Strong · PanelApp Australia · Autosomal dominant · 2025
- UNC79HGNC:19966
- Strong · PanelApp Australia · Autosomal dominant · 2025
- UPF1HGNC:9962
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- WBP4HGNC:12739
- Strong · PanelApp Australia · Autosomal recessive · 2025
- WDR5HGNC:12757
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2023
- YWHAEHGNC:12851
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ZBTB47HGNC:26955
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ZFHX3HGNC:777
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ZMYND8HGNC:9397
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2024
- AGPAT3HGNC:326
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- AKAP6HGNC:376
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- ASTN2HGNC:17021
- Moderate · PanelApp Australia · Semidominant · 2025
- ATAD2BHGNC:29230
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- ATG12HGNC:588
- Moderate · G2P · Autosomal recessive · 2026
- ATXN2LHGNC:31326
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- CACNA1EHGNC:1392
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- CBX1HGNC:1551
- Moderate · G2P · Autosomal dominant · 2025
- CCT3HGNC:1616
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- DHX32HGNC:16717
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- DROSHAHGNC:17904
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- DSPHGNC:3052
- Moderate · G2P · Autosomal dominant · 2022
- EEF2HGNC:3214
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
- EIF2AHGNC:3254
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- EPHA7HGNC:3390
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- ERGIC3HGNC:15927
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- FOXP4HGNC:20842
- Moderate · G2P · Autosomal dominant · 2025
- FOXR1HGNC:29980
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- FRYHGNC:20367
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- HECTD1HGNC:20157
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- HNRNPDHGNC:5036
- Moderate · G2P · Autosomal dominant · 2025
- JAKMIP1HGNC:26460
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- JPH3HGNC:14203
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
- KDM5AHGNC:9886
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · G2P · Autosomal recessive · 2015
- KICS2HGNC:26517
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- KPNA7HGNC:21839
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- LEO1HGNC:30401
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- LRRC45HGNC:28302
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- MMGT1HGNC:28100
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- MN1HGNC:7180
- Moderate · G2P · Autosomal dominant · 2026
- MRTFBHGNC:29819
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
- NAV2HGNC:15997
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- PIP5K1CHGNC:8996
- Moderate · G2P · Autosomal dominant · 2023
- PPP2R2BHGNC:9305
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- PPP5CHGNC:9322
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- PRICKLE2HGNC:20340
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- PRRT2HGNC:30500
- Moderate · G2P · Autosomal recessive · 2026
- PSMB1HGNC:9537
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- RAB14HGNC:16524
- Moderate · G2P · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- RAB1AHGNC:9758
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- RBFOX3HGNC:27097
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- SATB1HGNC:10541
- Moderate · G2P · Autosomal dominant · 2025
- SELENOIHGNC:29361
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- SEMA5AHGNC:10736
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- SF1HGNC:12950
- Moderate · G2P · Autosomal dominant · 2025
- SLC35F1HGNC:21483
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- TAF1CHGNC:11534
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- TM2D3HGNC:24128
- Moderate · G2P · Autosomal recessive · 2025
- TRPC5HGNC:12337
- Moderate · PanelApp Australia · X-linked · 2025
- Limited · G2P · X-linked · 2023
- UBTFHGNC:12511
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- VCPHGNC:12666
- Moderate · G2P · Autosomal dominant · 2026
- WDFY3HGNC:20751
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- YWHAZHGNC:12855
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- ZDHHC16HGNC:20714
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- ADRA2BHGNC:282
- Limited · G2P · Autosomal recessive · 2025
- AGO3HGNC:18421
- Limited · PanelApp Australia · Autosomal dominant · 2025
- ANK2HGNC:493
- Limited · G2P · Autosomal dominant · 2020
- ANKS1BHGNC:24600
- Limited · Ambry Genetics · Autosomal dominant · 2024
- ARHGEF40HGNC:25516
- Limited · Ambry Genetics · Autosomal dominant · 2025
- ARL14EPHGNC:26798
- Limited · G2P · Autosomal recessive · 2025
- ASCL1HGNC:738
- Limited · G2P · Autosomal recessive · 2025
- ATP6V1C1HGNC:856
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
- BANF1HGNC:17397
- Limited · PanelApp Australia · Autosomal dominant · 2025
- BDH1HGNC:1027
- Limited · Ambry Genetics · Autosomal recessive · 2025
- CACNA1GHGNC:1394
- Limited · G2P · Autosomal recessive · 2025
- CAPN10HGNC:1477
- Limited · G2P · Autosomal recessive · 2025
- CCNA2HGNC:1578
- Limited · G2P · Autosomal recessive · 2025
- CCT4HGNC:1617
- Limited · Ambry Genetics · Autosomal dominant · 2024
- CCT6AHGNC:1620
- Limited · Ambry Genetics · Autosomal dominant · 2024
- CCT7HGNC:1622
- Limited · Ambry Genetics · Autosomal dominant · 2024
- CCT8HGNC:1623
- Limited · Ambry Genetics · Autosomal dominant · 2024
- CDO1HGNC:1795
- Limited · Ambry Genetics · Autosomal dominant · 2025
- CHL1HGNC:1939
- Limited · Ambry Genetics · Autosomal dominant · 2025
- CLDN5HGNC:2047
- Limited · G2P · Autosomal dominant · 2022
- CNKSR1HGNC:19700
- Limited · G2P · Autosomal recessive · 2025
- COQ5HGNC:28722
- Limited · G2P · Autosomal recessive · 2025
- CPSF6HGNC:13871
- Limited · Broad Center for Mendelian Genomics · Autosomal dominant · 2023
- DAB1HGNC:2661
- Limited · PanelApp Australia · Autosomal recessive · 2025
- DDX39BHGNC:13917
- Limited · Ambry Genetics · Autosomal dominant · 2025
- DDX54HGNC:20084
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- DENND4BHGNC:29044
- Limited · PMGRC · Autosomal dominant · 2026
- DHX34HGNC:16719
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- DLG2HGNC:2901
- Limited · Ambry Genetics · Autosomal dominant · 2025
- DNAH14HGNC:2945
- Limited · G2P · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- DNAJA1HGNC:5229
- Limited · PanelApp Australia · Autosomal recessive · 2025
- EHMT2HGNC:14129
- Limited · Ambry Genetics · Autosomal recessive · 2025
- ELMOD1HGNC:25334
- Limited · PanelApp Australia · Autosomal recessive · 2025
- ELP1HGNC:5959
- Limited · PanelApp Australia · Autosomal recessive · 2025
- EP400HGNC:11958
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2025
- ETS1HGNC:3488
- Limited · PanelApp Australia · Autosomal dominant · 2025
- FASNHGNC:3594
- Limited · G2P · Autosomal recessive · 2025
- GIGYF1HGNC:9126
- Limited · G2P · Autosomal dominant · 2025
- GON4LHGNC:25973
- Limited · G2P · Autosomal recessive · 2015
- GRIN2AHGNC:4585
- Limited · G2P · Autosomal recessive · 2025
- GTF2IRD1HGNC:4661
- Limited · G2P · Autosomal recessive · 2023
- H2AC6HGNC:4733
- Limited · G2P · Autosomal dominant · 2025
- H3-4HGNC:4778
- Limited · G2P · Autosomal recessive · 2015
- Limited · G2P · Autosomal recessive · 2015
- HGNC:28483HGNC:28483
- Limited · Ambry Genetics · Autosomal recessive · 2025
- HGNC:8009HGNC:8009
- Limited · Ambry Genetics · Autosomal recessive · 2025
- JMJD1CHGNC:12313
- Limited · G2P · Autosomal dominant · 2023
- KCNAB3HGNC:6230
- Limited · PanelApp Australia · Autosomal dominant · 2025
- KCNH3HGNC:6252
- Limited · Ambry Genetics · Autosomal dominant · 2025
- KCTD13HGNC:22234
- Limited · PanelApp Australia · Autosomal dominant · 2025
- KDM6BHGNC:29012
- Limited · G2P · Autosomal recessive · 2015
- KIF5BHGNC:6324
- Limited · PMGRC · Autosomal dominant · 2026
- KLHL13HGNC:22931
- Limited · PanelApp Australia · X-linked · 2025
- KPNA4HGNC:6397
- Limited · Stanford Center for Undiagnosed Diseases · Autosomal dominant · 2026
- LRRC8CHGNC:25075
- Limited · Ambry Genetics · Autosomal dominant · 2025
- LSM1HGNC:20472
- Limited · PanelApp Australia · Autosomal recessive · 2025
- MAP7D3HGNC:25742
- Limited · Ambry Genetics · X-linked · 2025
- MARK4HGNC:13538
- Limited · G2P · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
- MAU2HGNC:29140
- Limited · G2P · Autosomal dominant · 2025
- MEPCEHGNC:20247
- Limited · PanelApp Australia · Autosomal dominant · 2025
- METAP1HGNC:15789
- Limited · PanelApp Australia · Autosomal recessive · 2025
- MIB1HGNC:21086
- Limited · G2P · Autosomal dominant · 2025
- NAA30HGNC:19844
- Limited · PanelApp Australia · Autosomal dominant · 2025
- NCDNHGNC:17597
- Limited · G2P · Autosomal recessive · 2021
- NCOR1HGNC:7672
- Limited · G2P · Autosomal dominant · 2019
- NPAS3HGNC:19311
- Limited · PMGRC · Autosomal dominant · 2026
- PARP1HGNC:270
- Limited · G2P · Autosomal recessive · 2015
- PECRHGNC:18281
- Limited · G2P · Autosomal recessive · 2015
- PPFIA2HGNC:9246
- Limited · Ambry Genetics · Autosomal dominant · 2025
- PPP2R5CHGNC:9311
- Limited · Ambry Genetics · Autosomal dominant · 2025
- PROSER1HGNC:20291
- Limited · G2P · Autosomal recessive · 2022
- PSMC1HGNC:9547
- Limited · G2P · Autosomal dominant · 2022
- QTMANHGNC:20887
- Limited · Ambry Genetics · Autosomal dominant · 2025
- RAB35HGNC:9774
- Limited · PanelApp Australia · Autosomal recessive · 2025
- RABL6HGNC:24703
- Limited · G2P · Autosomal recessive · 2015
- RACK1HGNC:4399
- Limited · Ambry Genetics · Autosomal dominant · 2025
- RALGDSHGNC:9842
- Limited · G2P · Autosomal recessive · 2015
- RDH14HGNC:19979
- Limited · PanelApp Australia · Autosomal recessive · 2025
- RGS6HGNC:10002
- Limited · PanelApp Australia · Autosomal recessive · 2025
- RGS7HGNC:10003
- Limited · G2P · Autosomal recessive · 2015
- RING1HGNC:10018
- Limited · PanelApp Australia · Autosomal dominant · 2025
- SOX12HGNC:11198
- Limited · Ambry Genetics · Autosomal dominant · 2025
- SOX8HGNC:11203
- Limited · PanelApp Australia · Autosomal recessive · 2025
- SPTBN5HGNC:15680
- Limited · PanelApp Australia · Autosomal dominant · 2025
- SSBP3HGNC:15674
- Limited · PMGRC · Autosomal dominant · 2026
- TMEM135HGNC:26167
- Limited · G2P · Autosomal recessive · 2015
- TMPRSS9HGNC:30079
- Limited · PanelApp Australia · Autosomal recessive · 2025
- TOP2BHGNC:11990
- Limited · Ambry Genetics · Autosomal dominant · 2025
- VPS26CHGNC:3044
- Limited · PanelApp Australia · Autosomal dominant · 2025
- WASF1HGNC:12732
- Limited · G2P · Autosomal dominant · 2025
- WASHC3HGNC:24256
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- ZBTB40HGNC:29045
- Limited · G2P · Autosomal recessive · 2015
- ZC2HC1CHGNC:20354
- Limited · Ambry Genetics · Autosomal recessive · 2025
- ZFTRAF1HGNC:17806
- Limited · G2P · Autosomal recessive · 2025
- ZNF18HGNC:12969
- Limited · PMGRC · Autosomal recessive · 2026
- ZNF407HGNC:19904
- Limited · Ambry Genetics · Autosomal dominant · 2024
- ZNF609HGNC:29003
- Limited · PMGRC · Autosomal recessive · 2026
- ZCCHC8HGNC:25265
- Refuted Evidence · G2P · Autosomal recessive · 2026
Where it sits
- A kind of
- Narrower terms (17)
- Aicardi syndrome
- alternating hemiplegia
- atypical Rett syndrome
- complex neurodevelopmental disorder
- Hao-Fountain syndrome
- intellectual disability
- Mendelian neurodevelopmental disorder
- microcephaly
- neurodevelopmental disorder with microcephaly, hypotonia, and absent language
- neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies
- neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- neurodevelopmental disorder with seizures and brain abnormalities
- neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
- TCF7L2-related neurodevelopmental disorder
- toluene embryopathy
- Williams syndrome
- Yoon-Bellen neurodevelopmental syndrome