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:0002033 | HP:0002033 | Poor suck | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 127 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 6 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040282 - Frequent | | | 48 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 38 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1003 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 65 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616323 | Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | | | | 88 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 6 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040283 - Occasional | | | 284 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 90 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 172 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | HP:0040282 - Frequent | | | 12 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 92 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 12 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 4 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 337 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | . | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | HP:0003593 - Infantile onset | | 28 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0002033 | HP:0002033 | Poor suck | 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:0002033 | HP:0002033 | Poor suck | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 66 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1935 | Early myoclonic encephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 28 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1935 | Early myoclonic encephalopathy | HP:0040282 - Frequent | | | 166 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC52A1 CL E G H | 55065 | 30225 | OMIM:615026 | Riboflavin deficiency | . | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | . | | | 9 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 9 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 135 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040281 - Very frequent | | | 37 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 4 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 140 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | 101 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 3 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 84 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 57 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 102 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040281 - Very frequent | | | 35 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | HP:0040282 - Frequent | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 278 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0002033 | HP:0002033 | Poor suck | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |