astigmatism | | ISO | RGD:12738956 | 9068941 | ClinVar Annotator: match by term: Astigmatism | ClinVar | PMID:25741868, PMID:28492532 |
Ataxia | | ISO | RGD:11089159 | 9068941 | ClinVar Annotator: match by term: Ataxia | ClinVar | PMID:25741868, PMID:28377535 |
autistic disorder | | ISO | RGD:13627252 | 9068941 | ClinVar Annotator: match by term: Autistic behavior | ClinVar | PMID:25741868 |
congenital merosin-deficient muscular dystrophy 1A | | ISO | RGD:11346527 | 9068941 | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar | PMID:27854218, PMID:28492532 |
Craniosynostosis Syndrome, Autosomal Recessive | | ISO | RGD:13612056 | 9068941 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:25741868 |
Developmental Disabilities | | ISO | RGD:39456577 | 9068941 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741871 |
dystonia | | ISO | RGD:40815981 | 9068941 | ClinVar Annotator: match by term: Paroxysmal dystonia | ClinVar | PMID:25741868 |
epilepsy | | ISO | RGD:40888389 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | |
epilepsy | | ISO | RGD:13799016 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:25741868, PMID:28492532 |
epilepsy | | ISO | RGD:39456444 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | |
epilepsy | | ISO | RGD:12741699 | 9068941 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:12895378 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:40887737 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:13611252 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:13531728 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:23020937 |
Episodic Ataxia Type 9 | | ISO | RGD:10397600 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:10397610 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:12741712 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:11634017 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:13834910 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:11091704 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:40887621 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:10401463 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:24272827 more ... |
Episodic Ataxia Type 9 | | ISO | RGD:40887663 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:21072337 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:11523045 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868 more ... |
Episodic Ataxia Type 9 | | ISO | RGD:12849226 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868 |
Episodic Ataxia Type 9 | | ISO | RGD:11633182 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868 more ... |
Episodic Ataxia Type 9 | | ISO | RGD:40887739 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:11051506 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868 more ... |
Episodic Ataxia Type 9 | | ISO | RGD:40887657 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:12913888 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:40887655 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:13803077 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25356899 more ... |
Episodic Ataxia Type 9 | | ISO | RGD:12893817 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:10397599 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:40887653 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Episodic Ataxia Type 9 | | ISO | RGD:12906192 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868 |
Episodic Ataxia Type 9 | | ISO | RGD:13509391 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868 more ... |
Episodic Ataxia Type 9 | | ISO | RGD:13794554 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25326635, PMID:25741868 |
Episodic Ataxia Type 9 | | ISO | RGD:34892307 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | PMID:25741868, PMID:28377535 |
Episodic Ataxia Type 9 | | ISO | RGD:40887660 | 9068941 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | |
Focal Epilepsy with Speech Disorder and with or without Mental Retardation | | ISO | RGD:12791697 | 9068941 | ClinVar Annotator: match by term: Epilepsy more ... | ClinVar | PMID:25741868 |
Generalized Epilepsy | | ISO | RGD:12791852 | 9068941 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:25741868 |
genetic disease | | ISO | RGD:13531261 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:27135925 |
genetic disease | | ISO | RGD:10401463 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24272827 more ... |
genetic disease | | ISO | RGD:12740666 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 |
genetic disease | | ISO | RGD:40886583 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | |
genetic disease | | ISO | RGD:13530875 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 |
genetic disease | | ISO | RGD:10401562 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868, PMID:28377535 |
genetic disease | | ISO | RGD:13530616 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | |
genetic disease | | ISO | RGD:40887741 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | |
genetic disease | | ISO | RGD:40887771 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19874789 |
genetic disease | | ISO | RGD:13531728 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23020937 |
genetic disease | | ISO | RGD:40886735 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:27818011, PMID:28377535 |
genetic disease | | ISO | RGD:13509391 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... |
genetic disease | | ISO | RGD:40887348 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | |
genetic disease | | ISO | RGD:40887345 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | |
genetic disease | | ISO | RGD:13531846 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | |
genetic disease | | ISO | RGD:26921884 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 |
intellectual disability | | ISO | RGD:40814432 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:9686571 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:24272827 more ... |
intellectual disability | | ISO | RGD:12906192 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:11091704 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:28377535 |
intellectual disability | | ISO | RGD:12849226 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:40814430 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:40814431 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:38596725 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:12741712 | 9068941 | ClinVar Annotator: match by term: intellectual deficiency | ClinVar | PMID:25741868, PMID:28377535 |
intellectual disability | | ISO | RGD:14979411 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:11647492 | 9068941 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | |
intellectual disability | | ISO | RGD:13797989 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:11659294 | 9068941 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | |
intellectual disability | | ISO | RGD:11610456 | 9068941 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | |
intellectual disability | | ISO | RGD:11599059 | 9068941 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | |
intellectual disability | | ISO | RGD:11610644 | 9068941 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | |
intellectual disability | | ISO | RGD:13509391 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 more ... |
intellectual disability | | ISO | RGD:12741628 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | |
intellectual disability | | ISO | RGD:12913208 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:23160955 more ... |
intellectual disability | | ISO | RGD:40814429 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 |
intellectual disability | | ISO | RGD:8567883 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:20890276 more ... |
intellectual disability | | ISO | RGD:11608975 | 9068941 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | |
visual epilepsy | | ISO | RGD:40888389 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | |
visual epilepsy | | ISO | RGD:13799016 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:25741868, PMID:28492532 |
visual epilepsy | | ISO | RGD:39456444 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | |