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:0011344 | HP:0011344 | Severe global developmental delay | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ADSL CL E G H | 158 | 291 | ORPHA:46 | Adenylosuccinate lyase deficiency | HP:0040281 - Very frequent | | | 118 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040282 - Frequent | | | 58 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | C18ORF32 CL E G H | 497661 | 31690 | OMIM:619985 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040281 - Very frequent | | | 118 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CTNNA2 CL E G H | 1496 | 2510 | OMIM:618174 | Cortical dysplasia, complex, with other brain malformations 9 | . | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | . | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | EXOC8 CL E G H | 149371 | 24659 | OMIM:619076 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:618396 | Epileptic encephalopathy, early infantile, 74 | . | | | 139 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | . | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040283 - Occasional | | | 6 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GSX2 CL E G H | 170825 | 24959 | OMIM:618646 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 10 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | LAMB1 CL E G H | 3912 | 6486 | ORPHA:352682 | Cobblestone lissencephaly without muscular or ocular involvement | HP:0040282 - Frequent | | | 71 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | . | | | 71 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | | | | 32 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040282 - Frequent | | | 88 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 96 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | . | | | 8 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 37 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040282 - Frequent | | | 53 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040281 - Very frequent | | | 11 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 334 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | HP:0040283 - Occasional | | | 37 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040282 - Frequent | | | 113 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 66 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040281 - Very frequent | | | 36 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | | | | 48 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TAF8 CL E G H | 129685 | 17300 | OMIM:619972 | | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040283 - Occasional | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040281 - Very frequent | | | 12 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 84 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 57 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 102 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | . | | | 102 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | HP:0040281 - Very frequent | | | 21 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | . | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0011344 | HP:0011344 | Severe global developmental delay | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |