Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | | | | 39 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 121 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0100023 | HP:0100023 | Recurrent hand flapping | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 278 | | |