Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 392 | 469 | 102771 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 167 | 1875 | 601443 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CHST3 CL E G H | 9469 | 143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 143095 | C1840471 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 97 | 16999 | 608757 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1867 | 13830 | 604569 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | COL11A2 CL E G H | 1302 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 1759 | 2187 | 120290 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2428 | 2197 | 120150 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1759 | 2198 | 120160 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | COL2A1 CL E G H | 1280 | 3450 | Mehta Lewis Patton syndrome | | | ORPHA | 1 | | 2380 | 2200 | 120140 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 142 | 30528 | 608977 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | DSE CL E G H | 29940 | 615539 | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 | C3809845 | OMIM | 1 | | 364 | 21144 | 605942 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | EP300 CL E G H | 2033 | 613684 | Rubinstein-Taybi syndrome 2 | 613684 | C3150941 | OMIM | 1 | | 1266 | 3373 | 602700 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 191 | 1356 | 611605 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | FGF3 CL E G H | 2248 | 610706 | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) | 610706 | C1853144 | OMIM | 1 | | 107 | 3681 | 164950 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 154 | 3760 | 604806 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 700 | 3823 | 605515 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | FTSJ1 CL E G H | 24140 | 309549 | Mental retardation 9, X-linked | 309549 | C0796215 | OMIM | 1 | | 239 | 13254 | 300499 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 191 | 4116 | 606953 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 143 | 5099 | 142955 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1563 | 6180 | 147265 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | KIDINS220 CL E G H | 57498 | 521390 | | | | ORPHA | 1 | | 617 | 29508 | 615759 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | KIF14 CL E G H | 9928 | 617914 | MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | 617914 | CN895593 | OMIM | 1 | | 288 | 19181 | 611279 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 104 | 20716 | 611729 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 2073 | 7132 | 159555 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 1 | | 113 | 26576 | 605739 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1222 | 16877 | 608507 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 815 | 7905 | 607100 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 328 | 8592 | 300142 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 17 | 19380 | 0 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 162 | 28991 | 613516 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 939 | 11111 | 300040 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | TNNT1 CL E G H | 7138 | 605355 | Nemaline myopathy 5 | 605355 | C1854380 | OMIM | 1 | | 372 | 11948 | 191041 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0002194 | Delayed gross motor development | 0 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 0 | | 653 | 236 | 600293 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 0 | | 114 | 33814 | 615358 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | BMP1 CL E G H | 649 | 614856 | Osteogenesis imperfecta, type xiii | 614856 | C3553887 | OMIM | 0 | | 549 | 1067 | 112264 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 0 | | 468 | 1955 | 100690 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 0 | | 454 | 1961 | 100710 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 0 | | 505 | 1965 | 100720 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 0 | | 1011 | 1966 | 100725 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 0 | | 1000 | 26594 | 610285 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 0 | | 529 | 24682 | 609144 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 0 | | 323 | 17494 | 608803 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | HUWE1 CL E G H | 10075 | 85328 | | | | ORPHA | 0 | | 1285 | 30892 | 300697 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 0 | | | 6512 | 151350 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 0 | | 1051 | 6696 | 604270 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | MT-TE CL E G H | 4556 | 254864 | | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 0 | | 620 | 7525 | 601296 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | NAA10 CL E G H | 8260 | 276432 | | | | ORPHA | 0 | | 401 | 18704 | 300013 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 5068 | 9069 | 601282 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | PTEN CL E G H | 5728 | 109 | Bannayan-Riley-Ruvalcaba syndrome | | C0265326 | ORPHA | 0 | | 3012 | 9588 | 601728 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 0 | | 562 | 9863 | 601592 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 534 | 11535 | 313650 |
HP:0002194 | HP:0031936 | Delayed ability to walk | 1 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |
HP:0002194 | HP:0033128 | Delayed ability to crawl | 1 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |
HP:0002194 | HP:0025335 | Delayed ability to stand | 1 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |
HP:0002194 | HP:0025336 | Delayed ability to sit | 1 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |
HP:0002194 | HP:0033257 | Delayed ability to walk with support | 1 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |
HP:0002194 | HP:0032989 | Delayed ability to roll over | 1 | TRMU CL E G H | 55687 | 254864 | | | | ORPHA | 0 | | 623 | 25481 | 610230 |