| ESAM{:target="_blank"} |
14 Phenopackets;Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity{:target="_blank"} |
| HMGCR{:target="_blank"} |
15 Phenopackets;Muscular dystrophy, limb-girdle, autosomal recessive 28{:target="_blank"} |
| SMARCB1{:target="_blank"} |
17 Phenopackets;Coffin-Siris syndrome 3{:target="_blank"}Rhabdoid tumor predisposition syndrome-1{:target="_blank"}severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus{:target="_blank"} |
| LMNA{:target="_blank"} |
127 Phenopackets;Cardiomyopathy, dilated, 1A{:target="_blank"}Hutchinson-Gilford progeria{:target="_blank"}LMNA-related congenital muscular dystrophy{:target="_blank"}Emery-Dreifuss muscular dystrophy 2, autosomal dominant{:target="_blank"}Lipodystrophy, familial partial, type 2{:target="_blank"} |
| 11q_terminal_deletion{:target="_blank"} |
69 Phenopackets;Jacobsen syndrome{:target="_blank"} |
| TBX5{:target="_blank"} |
103 Phenopackets;Holt-Oram syndrome{:target="_blank"} |
| NUP54{:target="_blank"} |
3 Phenopackets;Dystonia 37, early-onset, with striatal lesions{:target="_blank"} |
| WWOX{:target="_blank"} |
9 Phenopackets;Developmental and epileptic encephalopathy 28{:target="_blank"}Spinocerebellar ataxia, autosomal recessive 12{:target="_blank"} |
| SRSF1{:target="_blank"} |
15 Phenopackets;Developmental and epileptic encephalopathy 28{:target="_blank"} |
| ANKRD11{:target="_blank"} |
328 Phenopackets;KBG syndrome{:target="_blank"} |
| single_cohorts{:target="_blank"} |
60 Phenopackets;Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures{:target="_blank"}Dystonia 22, adult-onset{:target="_blank"}Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities{:target="_blank"}Birt-Hogg-Dube syndrome 2{:target="_blank"}Intellectual developmental disorder, autosomal dominant 73{:target="_blank"}Auriculocondylar syndrome 2B{:target="_blank"}Combined oxidative phosphorylation deficiency 58{:target="_blank"} |
| OFD1{:target="_blank"} |
25 Phenopackets;Joubert syndrome 10{:target="_blank"}Simpson-Golabi-Behmel syndrome, type 2{:target="_blank"}Orofaciodigital syndrome I{:target="_blank"} |
| PPP2R1A{:target="_blank"} |
60 Phenopackets;Houge-Janssen syndrome 2{:target="_blank"} |
| TRAF7{:target="_blank"} |
45 Phenopackets;Cardiac, facial, and digital anomalies with developmental delay{:target="_blank"} |
| MPV17{:target="_blank"} |
50 Phenopackets;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type){:target="_blank"} |
| POT1{:target="_blank"} |
4 Phenopackets;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8{:target="_blank"} |
| GLI3{:target="_blank"} |
77 Phenopackets;Greig cephalopolysyndactyly syndrome{:target="_blank"}Pallister-Hall syndrome{:target="_blank"}Polydactyly, postaxial, types A1 and B{:target="_blank"} |
| DEPDC5{:target="_blank"} |
8 Phenopackets;Developmental and epileptic encephalopathy 111{:target="_blank"} |
| SETD2{:target="_blank"} |
29 Phenopackets;Intellectual developmental disorder, autosomal dominant 70{:target="_blank"}Luscan-Lumish syndrome{:target="_blank"}SETD2-Sotos-like{:target="_blank"}Rabin-Pappas syndrome{:target="_blank"}SETD2-Autism spectrum disorder{:target="_blank"} |
| SLC4A1{:target="_blank"} |
33 Phenopackets;Distal renal tubular acidosis 1{:target="_blank"}Spherocytosis, type 4{:target="_blank"}Renal tubular acidosis, distal, with hemolytic anemia{:target="_blank"}Cryohydrocytosis{:target="_blank"} |
| ZSWIM6{:target="_blank"} |
16 Phenopackets;Acromelic frontonasal dysostosis{:target="_blank"}Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features{:target="_blank"} |
| ANKH{:target="_blank"} |
8 Phenopackets;Craniometaphyseal dysplasia{:target="_blank"} |
| KDM6B{:target="_blank"} |
73 Phenopackets;Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities{:target="_blank"} |
| SMARCC2{:target="_blank"} |
60 Phenopackets;Coffin-Siris syndrome 8{:target="_blank"} |
| ATP13A2{:target="_blank"} |
42 Phenopackets;Kufor-Rakeb syndrome{:target="_blank"}Spastic paraplegia 78, autosomal recessive{:target="_blank"} |
| MAPK8IP3{:target="_blank"} |
22 Phenopackets;Neurodevelopmental disorder with or without variable brain abnormalities{:target="_blank"} |
| FBN1{:target="_blank"} |
103 Phenopackets;Marfan syndrome{:target="_blank"}Acromicric dysplasia{:target="_blank"}Marfan lipodystrophy syndrome{:target="_blank"}Geleophysic dysplasia 2{:target="_blank"}Ectopia lentis, familial{:target="_blank"}Stiff skin syndrome{:target="_blank"} |
| SCO2{:target="_blank"} |
72 Phenopackets;Mitochondrial complex IV deficiency, nuclear type 2{:target="_blank"}Myopia 6{:target="_blank"} |
| WFS1{:target="_blank"} |
16 Phenopackets;Wolfram syndrome 1{:target="_blank"}Deafness, autosomal dominant 6{:target="_blank"} |
| TBX1{:target="_blank"} |
5 Phenopackets;Conotruncal anomaly face syndrome{:target="_blank"}DiGeorge syndrome{:target="_blank"} |
| ISCA2{:target="_blank"} |
16 Phenopackets;Mitochondrial DNA depletion syndrome 4{:target="_blank"} |
| SPTAN1{:target="_blank"} |
14 Phenopackets;Neuronopathy, distal hereditary motor, autosomal dominant 11{:target="_blank"} |
| SLC45A2{:target="_blank"} |
30 Phenopackets;Albinism, oculocutaneous, type IV{:target="_blank"} |
| ERI1{:target="_blank"} |
10 Phenopackets;[ERI1-related disease](https://omim.org/entry/ 608739){:target="_blank"} |
| SUOX{:target="_blank"} |
35 Phenopackets;Sulfite oxidase deficiency{:target="_blank"} |
| SON{:target="_blank"} |
52 Phenopackets;ZTTK SYNDROME{:target="_blank"} |
| EZH1{:target="_blank"} |
21 Phenopackets;EZH1-related neurodevelopmental disorder{:target="_blank"} |
| RPGRIP1{:target="_blank"} |
229 Phenopackets;Leber congenital amaurosis 6{:target="_blank"}Cone-rod dystrophy 13{:target="_blank"} |
| CBLB{:target="_blank"} |
3 Phenopackets;Autoimmune disease, multisystem, infantile-onset, 3{:target="_blank"} |
| SCN2A{:target="_blank"} |
394 Phenopackets;Developmental and epileptic encephalopathy 11{:target="_blank"}autism spectrum disorder{:target="_blank"}epilepsy{:target="_blank"}Atypical SCN2A-related disease{:target="_blank"}Seizures, benign familial infantile, 3{:target="_blank"} |
| LIRICAL{:target="_blank"} |
384 Phenopackets; |
| FBXL4{:target="_blank"} |
30 Phenopackets;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type){:target="_blank"} |
| LYN{:target="_blank"} |
4 Phenopackets;Autoinflammatory disease, systemic, with vasculitis{:target="_blank"} |
| COL3A1{:target="_blank"} |
39 Phenopackets;Ehlers-Danlos syndrome, vascular type{:target="_blank"}Polymicrogyria with or without vascular-type EDS{:target="_blank"} |
| STXBP1{:target="_blank"} |
463 Phenopackets;NDD{:target="_blank"}West Syndrome{:target="_blank"}EOEE{:target="_blank"}Ohtahara Syndrome{:target="_blank"}Other DEE{:target="_blank"}Atypical Rett Syndrome{:target="_blank"} |
| PTPN11{:target="_blank"} |
51 Phenopackets;LEOPARD syndrome 1{:target="_blank"}Noonan syndrome 1{:target="_blank"}Metachondromatosis{:target="_blank"} |