Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618654 | MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ | | | | 307 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040283 - Occasional | | | 253 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | . | | | 7 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BCKDHA CL E G H | 593 | 986 | OMIM:248600 | Maple syrup urine disease | . | | | 120 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BCKDHB CL E G H | 594 | 987 | OMIM:248600 | Maple syrup urine disease | . | | | 162 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 38 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | . | | | 276 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 317 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1003 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 114 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 200 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616323 | Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | | | | 88 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | | 111 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | | | | 40 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | HP:0040283 - Occasional | | | 373 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | | | | 284 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | | | | 263 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | | | | 90 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040282 - Frequent | | | 291 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DBT CL E G H | 1629 | 2698 | OMIM:248600 | Maple syrup urine disease | . | | | 156 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | HP:0040283 - Occasional | | | 145 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 22 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | | 94 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | . | | | 44 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 121 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 11 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040281 - Very frequent | | | 133 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040282 - Frequent | | | 250 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 81 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 17 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | . | | | 493 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 173 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GSX2 CL E G H | 170825 | 24959 | OMIM:618646 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HMGA2 CL E G H | 8091 | 5009 | OMIM:618908 | SILVER-RUSSELL SYNDROME 5; SRS5 | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | . | | | 98 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | . | | | 46 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 14 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 196 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 130 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | . | | | 411 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 125 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040281 - Very frequent | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040281 - Very frequent | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040281 - Very frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NAPB CL E G H | 63908 | 15751 | OMIM:620033 | | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040281 - Very frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040281 - Very frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 31 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040281 - Very frequent | | | 121 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040281 - Very frequent | | | 121 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | 121 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | | | | 5 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 337 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PLAG1 CL E G H | 5324 | 9045 | OMIM:618907 | SILVER-RUSSELL SYNDROME 4; SRS4 | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PNPO CL E G H | 55163 | 30260 | OMIM:610090 | Pyridoxamine 5-prime-phosphate oxidase deficiency | . | | | 92 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | | | | 60 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POLR1B CL E G H | 84172 | 20454 | OMIM:618939 | TREACHER COLLINS SYNDROME 4; TCS4 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 63 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040283 - Occasional | | | 81 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040281 - Very frequent | | | 27 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 665 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 291 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040281 - Very frequent | | | 53 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040282 - Frequent | | | 53 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040282 - Frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 212 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | | | | 16 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 61 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 40 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 137 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040283 - Occasional | | | 177 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 67 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1935 | Early myoclonic encephalopathy | | | | 11 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | | | | 40 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1935 | Early myoclonic encephalopathy | | | | 166 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC52A1 CL E G H | 55065 | 30225 | OMIM:615026 | Riboflavin deficiency | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 59 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040282 - Frequent | | | 93 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040281 - Very frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040281 - Very frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040281 - Very frequent | | | 37 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 315 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 99 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 73 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 155 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 253 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TIMMDC1 CL E G H | 51300 | 1321 | OMIM:618251 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 140 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 92 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040283 - Occasional | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | | | | 278 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0008872 | HP:0008872 | Feeding difficulties in infancy | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040282 - Frequent | | | 546 | | |
HP:0008872 | HP:0008872 | |