Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0001270 | Motor delay | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0001270 | Motor delay | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0001270 | Motor delay | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0001270 | Motor delay | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0001270 | Motor delay | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0001270 | Motor delay | 1 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0001270 | Motor delay | 1 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0001270 | Motor delay | 1 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0001270 | Motor delay | 1 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0001270 | Motor delay | 1 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0001270 | Motor delay | 1 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0001344 | Absent speech | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0001344 | Absent speech | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0001344 | Absent speech | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0001344 | Absent speech | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0001344 | Absent speech | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0001344 | Absent speech | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0001344 | Absent speech | 2 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0001344 | Absent speech | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0001344 | Absent speech | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0001344 | Absent speech | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0001344 | Absent speech | 2 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 606 | 4075 | 137160 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 602 | 4087 | 137164 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1298 | 14270 | 300460 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 511 | 10586 | 600235 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 2254 | 10597 | 603415 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0012758 | Neurodevelopmental delay | 0 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0001270 | Motor delay | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0012434 | Delayed social development | 1 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0001270 | Motor delay | 1 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0000750 | Delayed speech and language development | 1 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0001263 | Global developmental delay | 1 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0001344 | Absent speech | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0012736 | Profound global developmental delay | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0002194 | Delayed gross motor development | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0002474 | Expressive language delay | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0010863 | Receptive language delay | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011343 | Moderate global developmental delay | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0010862 | Delayed fine motor development | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0001344 | Absent speech | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0032988 | Persistent head lag | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011342 | Mild global developmental delay | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011344 | Severe global developmental delay | 2 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0012758 | HP:0025335 | Delayed ability to stand | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011352 | Severe receptive language delay | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0025336 | Delayed ability to sit | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0006863 | Severe expressive language delay | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011351 | Moderate receptive language delay | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0032989 | Delayed ability to roll over | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011345 | Moderate expressive language delay | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0033257 | Delayed ability to walk with support | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0033128 | Delayed ability to crawl | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011346 | Mild expressive language delay | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0031936 | Delayed ability to walk | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |
HP:0012758 | HP:0011350 | Mild receptive language delay | 3 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 0 | | 805 | 8620 | 607108 |