| 1 | Birth length less than 3rd percentile (HP:0003561) | 4.57741153 |
| 2 | Abnormality of the anterior horn cell (HP:0006802) | 3.82340139 |
| 3 | Degeneration of anterior horn cells (HP:0002398) | 3.82340139 |
| 4 | Selective tooth agenesis (HP:0001592) | 3.64170736 |
| 5 | Colon cancer (HP:0003003) | 3.60228589 |
| 6 | Acute necrotizing encephalopathy (HP:0006965) | 3.56078280 |
| 7 | Breast hypoplasia (HP:0003187) | 3.48348223 |
| 8 | Abnormality of the labia minora (HP:0012880) | 3.42421339 |
| 9 | Ependymoma (HP:0002888) | 3.38640790 |
| 10 | Acute encephalopathy (HP:0006846) | 3.36873104 |
| 11 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.30706501 |
| 12 | Increased CSF lactate (HP:0002490) | 3.28908266 |
| 13 | Cerebral hypomyelination (HP:0006808) | 3.23268386 |
| 14 | Patellar aplasia (HP:0006443) | 3.19719195 |
| 15 | Carpal bone hypoplasia (HP:0001498) | 3.16283877 |
| 16 | 11 pairs of ribs (HP:0000878) | 3.08501591 |
| 17 | Medulloblastoma (HP:0002885) | 3.06742049 |
| 18 | Aplasia/Hypoplasia of the patella (HP:0006498) | 3.02127818 |
| 19 | Rough bone trabeculation (HP:0100670) | 3.00647461 |
| 20 | Chromsome breakage (HP:0040012) | 2.95557264 |
| 21 | Increased serum lactate (HP:0002151) | 2.94796839 |
| 22 | Increased serum pyruvate (HP:0003542) | 2.92904813 |
| 23 | Reticulocytopenia (HP:0001896) | 2.91590298 |
| 24 | Oral leukoplakia (HP:0002745) | 2.88776488 |
| 25 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.87204256 |
| 26 | Abnormality of glycolysis (HP:0004366) | 2.84030155 |
| 27 | Mitochondrial inheritance (HP:0001427) | 2.83764843 |
| 28 | Type I transferrin isoform profile (HP:0003642) | 2.83554188 |
| 29 | Progressive macrocephaly (HP:0004481) | 2.80527675 |
| 30 | Abnormality of alanine metabolism (HP:0010916) | 2.78737672 |
| 31 | Hyperalaninemia (HP:0003348) | 2.78737672 |
| 32 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.78737672 |
| 33 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.72666889 |
| 34 | Irregular epiphyses (HP:0010582) | 2.69678470 |
| 35 | Increased hepatocellular lipid droplets (HP:0006565) | 2.68934500 |
| 36 | Meckel diverticulum (HP:0002245) | 2.67868996 |
| 37 | Abnormal number of incisors (HP:0011064) | 2.66159631 |
| 38 | Abnormality of the preputium (HP:0100587) | 2.64545930 |
| 39 | Glossoptosis (HP:0000162) | 2.63726025 |
| 40 | Abnormality of the ileum (HP:0001549) | 2.63443748 |
| 41 | Cerebral edema (HP:0002181) | 2.63433229 |
| 42 | Hepatocellular necrosis (HP:0001404) | 2.62896057 |
| 43 | Absent radius (HP:0003974) | 2.60264038 |
| 44 | Supernumerary spleens (HP:0009799) | 2.60058081 |
| 45 | Absent thumb (HP:0009777) | 2.58179361 |
| 46 | Trismus (HP:0000211) | 2.58149906 |
| 47 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.56914485 |
| 48 | Abnormality of chromosome stability (HP:0003220) | 2.55090172 |
| 49 | Abnormal protein glycosylation (HP:0012346) | 2.53504490 |
| 50 | Abnormal glycosylation (HP:0012345) | 2.53504490 |
| 51 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.53504490 |
| 52 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.53504490 |
| 53 | Multiple enchondromatosis (HP:0005701) | 2.50750354 |
| 54 | Premature ovarian failure (HP:0008209) | 2.48138447 |
| 55 | Neoplasm of the pancreas (HP:0002894) | 2.47595811 |
| 56 | 3-Methylglutaconic aciduria (HP:0003535) | 2.47141345 |
| 57 | Abnormality of methionine metabolism (HP:0010901) | 2.41935350 |
| 58 | Spinal muscular atrophy (HP:0007269) | 2.41869586 |
| 59 | Pelvic girdle muscle weakness (HP:0003749) | 2.41004772 |
| 60 | Lipid accumulation in hepatocytes (HP:0006561) | 2.37873642 |
| 61 | Premature graying of hair (HP:0002216) | 2.37508394 |
| 62 | Aplasia involving forearm bones (HP:0009822) | 2.36362374 |
| 63 | Absent forearm bone (HP:0003953) | 2.36362374 |
| 64 | Microvesicular hepatic steatosis (HP:0001414) | 2.35876522 |
| 65 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.35731702 |
| 66 | Impulsivity (HP:0100710) | 2.35446355 |
| 67 | Shoulder girdle muscle weakness (HP:0003547) | 2.35226244 |
| 68 | Lactic acidosis (HP:0003128) | 2.34931263 |
| 69 | Glioma (HP:0009733) | 2.33992941 |
| 70 | Agnosia (HP:0010524) | 2.33650054 |
| 71 | Rhabdomyosarcoma (HP:0002859) | 2.32851049 |
| 72 | Atresia of the external auditory canal (HP:0000413) | 2.31198343 |
| 73 | Hepatic necrosis (HP:0002605) | 2.30069127 |
| 74 | Stenosis of the external auditory canal (HP:0000402) | 2.28976106 |
| 75 | Missing ribs (HP:0000921) | 2.27630315 |
| 76 | Microretrognathia (HP:0000308) | 2.27319570 |
| 77 | Abnormal number of erythroid precursors (HP:0012131) | 2.26589743 |
| 78 | Abnormal trabecular bone morphology (HP:0100671) | 2.26204033 |
| 79 | Deviation of the thumb (HP:0009603) | 2.26002949 |
| 80 | Proximal placement of thumb (HP:0009623) | 2.25011918 |
| 81 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.23494877 |
| 82 | Small intestinal stenosis (HP:0012848) | 2.23242811 |
| 83 | Duodenal stenosis (HP:0100867) | 2.23242811 |
| 84 | Short middle phalanx of the 5th finger (HP:0004220) | 2.21866039 |
| 85 | Abnormality of the astrocytes (HP:0100707) | 2.20706431 |
| 86 | Astrocytoma (HP:0009592) | 2.20706431 |
| 87 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 2.20094047 |
| 88 | Basal cell carcinoma (HP:0002671) | 2.19664097 |
| 89 | Embryonal renal neoplasm (HP:0011794) | 2.19034539 |
| 90 | Myelodysplasia (HP:0002863) | 2.18902245 |
| 91 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.17546863 |
| 92 | Biliary tract neoplasm (HP:0100574) | 2.16451877 |
| 93 | Abnormality of serum amino acid levels (HP:0003112) | 2.14873841 |
| 94 | Horseshoe kidney (HP:0000085) | 2.14145222 |
| 95 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.12225227 |
| 96 | Absent epiphyses (HP:0010577) | 2.12225227 |
| 97 | Pancytopenia (HP:0001876) | 2.10732973 |
| 98 | Secondary amenorrhea (HP:0000869) | 2.08174042 |
| 99 | Bone marrow hypocellularity (HP:0005528) | 2.07910306 |
| 100 | Volvulus (HP:0002580) | 2.07512990 |
| 101 | Neoplasm of the oral cavity (HP:0100649) | 2.07038605 |
| 102 | Macrocytic anemia (HP:0001972) | 2.05925123 |
| 103 | Sloping forehead (HP:0000340) | 2.05447355 |
| 104 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.05263499 |
| 105 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.05082621 |
| 106 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.05082621 |
| 107 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.04699757 |
| 108 | Hypoplasia of the pons (HP:0012110) | 2.03882926 |
| 109 | Increased nuchal translucency (HP:0010880) | 2.03845420 |
| 110 | Hypoplasia of the radius (HP:0002984) | 2.02152938 |
| 111 | Abnormality of the pons (HP:0007361) | 2.01239443 |
| 112 | Facial hemangioma (HP:0000329) | 2.00995888 |
| 113 | Abnormality of cochlea (HP:0000375) | 1.98738815 |
| 114 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.98722930 |
| 115 | Prominent nose (HP:0000448) | 1.98541064 |
| 116 | Aplastic anemia (HP:0001915) | 1.95043007 |
| 117 | Exercise intolerance (HP:0003546) | 1.94647653 |
| 118 | Abnormality of the carotid arteries (HP:0005344) | 1.93481913 |
| 119 | Pallor (HP:0000980) | 1.93300425 |
| 120 | Respiratory failure (HP:0002878) | 1.93004600 |
| 121 | Aplasia/hypoplasia of the humerus (HP:0006507) | 1.91843358 |
| 122 | Pancreatic islet-cell hyperplasia (HP:0004510) | 1.91749615 |
| 123 | Abnormality of the musculature of the pelvis (HP:0001469) | 1.91591801 |
| 124 | Abnormality of the hip-girdle musculature (HP:0001445) | 1.91591801 |
| 125 | Reduced antithrombin III activity (HP:0001976) | 1.90215467 |
| 126 | Leukodystrophy (HP:0002415) | 1.89271544 |
| 127 | Squamous cell carcinoma (HP:0002860) | 1.85045545 |
| 128 | Abnormality of the duodenum (HP:0002246) | 1.84626101 |
| 129 | Facial cleft (HP:0002006) | 1.84253935 |
| 130 | Neoplasm of the colon (HP:0100273) | 1.83684677 |
| 131 | Renal Fanconi syndrome (HP:0001994) | 1.82264772 |
| 132 | Abnormal lung lobation (HP:0002101) | 1.81412515 |
| 133 | Metaphyseal cupping (HP:0003021) | 1.81231649 |
| 134 | Tongue fasciculations (HP:0001308) | 1.80992048 |
| 135 | CNS hypomyelination (HP:0003429) | 1.80852552 |
| 136 | Abnormality of the calcaneus (HP:0008364) | 1.80614848 |
| 137 | Cafe-au-lait spot (HP:0000957) | 1.80004727 |
| 138 | Sparse lateral eyebrow (HP:0005338) | 1.79631329 |
| 139 | Amaurosis fugax (HP:0100576) | 1.77855062 |
| 140 | Neoplasm of striated muscle (HP:0009728) | 1.75872378 |
| 141 | Increased intramyocellular lipid droplets (HP:0012240) | 1.74358228 |
| 142 | Duplicated collecting system (HP:0000081) | 1.73238224 |
| 143 | Respiratory difficulties (HP:0002880) | 1.72499032 |
| 144 | Ectopic kidney (HP:0000086) | 1.71963921 |
| 145 | Progressive muscle weakness (HP:0003323) | 1.71531016 |
| 146 | Triphalangeal thumb (HP:0001199) | 1.71393794 |
| 147 | Cellular immunodeficiency (HP:0005374) | 1.71197118 |
| 148 | Megaloblastic anemia (HP:0001889) | 1.69909987 |
| 149 | Abnormal biliary tract morphology (HP:0012440) | 1.69167921 |
| 150 | Flat capital femoral epiphysis (HP:0003370) | 1.69091711 |
| 151 | Cortical dysplasia (HP:0002539) | 1.68127847 |
| 152 | Cleft eyelid (HP:0000625) | 1.68115227 |
| 153 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 1.67631097 |
| 154 | Sparse eyelashes (HP:0000653) | 1.66894526 |
GNL2 
