| 1 | Birth length less than 3rd percentile (HP:0003561) | 5.20244499 |
| 2 | Autoimmune thrombocytopenia (HP:0001973) | 4.80611769 |
| 3 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 4.65327197 |
| 4 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 4.65327197 |
| 5 | Breast hypoplasia (HP:0003187) | 4.20088267 |
| 6 | Autoimmune hemolytic anemia (HP:0001890) | 3.95096587 |
| 7 | Agnosia (HP:0010524) | 3.93663535 |
| 8 | Cerebral hypomyelination (HP:0006808) | 3.83785468 |
| 9 | Abnormality of the labia minora (HP:0012880) | 3.77150082 |
| 10 | Rough bone trabeculation (HP:0100670) | 3.64329247 |
| 11 | Colon cancer (HP:0003003) | 3.59317110 |
| 12 | Ependymoma (HP:0002888) | 3.57597055 |
| 13 | Increased IgM level (HP:0003496) | 3.54235974 |
| 14 | Oral leukoplakia (HP:0002745) | 3.45653565 |
| 15 | Carpal bone hypoplasia (HP:0001498) | 3.25857443 |
| 16 | Degeneration of anterior horn cells (HP:0002398) | 3.19797156 |
| 17 | Abnormality of the anterior horn cell (HP:0006802) | 3.19797156 |
| 18 | Patellar aplasia (HP:0006443) | 3.16437529 |
| 19 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.14469316 |
| 20 | Impulsivity (HP:0100710) | 3.09682288 |
| 21 | Myotonia (HP:0002486) | 3.06348204 |
| 22 | Aplasia/Hypoplasia of the patella (HP:0006498) | 3.03698928 |
| 23 | Reticulocytopenia (HP:0001896) | 2.95488599 |
| 24 | Lip pit (HP:0100267) | 2.92960702 |
| 25 | Chin dimple (HP:0010751) | 2.92185770 |
| 26 | Abnormal number of erythroid precursors (HP:0012131) | 2.90281460 |
| 27 | Abnormal delayed hypersensitivity skin test (HP:0002963) | 2.81838150 |
| 28 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.81225975 |
| 29 | Anterior segment dysgenesis (HP:0007700) | 2.80006380 |
| 30 | Acute encephalopathy (HP:0006846) | 2.74833358 |
| 31 | Shoulder girdle muscle weakness (HP:0003547) | 2.74560166 |
| 32 | Neoplasm of the pancreas (HP:0002894) | 2.73050010 |
| 33 | Premature graying of hair (HP:0002216) | 2.72170918 |
| 34 | Pelvic girdle muscle weakness (HP:0003749) | 2.71451567 |
| 35 | Nemaline bodies (HP:0003798) | 2.70296896 |
| 36 | Selective tooth agenesis (HP:0001592) | 2.68240153 |
| 37 | Muscle fiber inclusion bodies (HP:0100299) | 2.68038387 |
| 38 | Premature ovarian failure (HP:0008209) | 2.66665084 |
| 39 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 2.64846323 |
| 40 | Increased hepatocellular lipid droplets (HP:0006565) | 2.64507063 |
| 41 | Aplastic anemia (HP:0001915) | 2.60414115 |
| 42 | Absent radius (HP:0003974) | 2.59600536 |
| 43 | Medulloblastoma (HP:0002885) | 2.58731037 |
| 44 | Neonatal hypoglycemia (HP:0001998) | 2.57126561 |
| 45 | Trismus (HP:0000211) | 2.56039470 |
| 46 | Secondary amenorrhea (HP:0000869) | 2.54302426 |
| 47 | Abnormal trabecular bone morphology (HP:0100671) | 2.52146153 |
| 48 | Eosinophilia (HP:0001880) | 2.50746856 |
| 49 | Chromsome breakage (HP:0040012) | 2.50704911 |
| 50 | Progressive macrocephaly (HP:0004481) | 2.49757501 |
| 51 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 2.49270841 |
| 52 | Absent thumb (HP:0009777) | 2.48373915 |
| 53 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.47940451 |
| 54 | Multiple enchondromatosis (HP:0005701) | 2.45851270 |
| 55 | Depressed nasal tip (HP:0000437) | 2.42625754 |
| 56 | Cellular immunodeficiency (HP:0005374) | 2.41501667 |
| 57 | Meckel diverticulum (HP:0002245) | 2.41435105 |
| 58 | Calcaneovalgus deformity (HP:0001848) | 2.40266978 |
| 59 | Abnormality of the hip-girdle musculature (HP:0001445) | 2.40155934 |
| 60 | Abnormality of the musculature of the pelvis (HP:0001469) | 2.40155934 |
| 61 | Macrocytic anemia (HP:0001972) | 2.37374263 |
| 62 | Volvulus (HP:0002580) | 2.37113045 |
| 63 | Sparse lateral eyebrow (HP:0005338) | 2.36846260 |
| 64 | Aplasia involving forearm bones (HP:0009822) | 2.35909546 |
| 65 | Absent forearm bone (HP:0003953) | 2.35909546 |
| 66 | Hyperglycemia (HP:0003074) | 2.35576453 |
| 67 | Abnormality of the ileum (HP:0001549) | 2.35308212 |
| 68 | Abnormality of chromosome stability (HP:0003220) | 2.34252051 |
| 69 | Glucose intolerance (HP:0000833) | 2.32702077 |
| 70 | Progressive muscle weakness (HP:0003323) | 2.32295781 |
| 71 | Abnormal lung lobation (HP:0002101) | 2.31495848 |
| 72 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.30325974 |
| 73 | Bone marrow hypocellularity (HP:0005528) | 2.29889145 |
| 74 | Mitochondrial inheritance (HP:0001427) | 2.29267912 |
| 75 | Abnormality of the preputium (HP:0100587) | 2.28869359 |
| 76 | Stenosis of the external auditory canal (HP:0000402) | 2.28784530 |
| 77 | Lipid accumulation in hepatocytes (HP:0006561) | 2.26655999 |
| 78 | Cerebral edema (HP:0002181) | 2.26349913 |
| 79 | Respiratory failure (HP:0002878) | 2.26287027 |
| 80 | Distal arthrogryposis (HP:0005684) | 2.22821249 |
| 81 | Type 2 muscle fiber atrophy (HP:0003554) | 2.21894165 |
| 82 | Abnormality of the astrocytes (HP:0100707) | 2.21608497 |
| 83 | Astrocytoma (HP:0009592) | 2.21608497 |
| 84 | Rhabdomyosarcoma (HP:0002859) | 2.21035131 |
| 85 | Increased serum pyruvate (HP:0003542) | 2.20975675 |
| 86 | Abnormality of glycolysis (HP:0004366) | 2.20975675 |
| 87 | Pancreatic islet-cell hyperplasia (HP:0004510) | 2.20939942 |
| 88 | Deformed tarsal bones (HP:0008119) | 2.20417168 |
| 89 | Lactic acidosis (HP:0003128) | 2.20047449 |
| 90 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.19732493 |
| 91 | Neoplasm of the colon (HP:0100273) | 2.19152574 |
| 92 | Biliary tract neoplasm (HP:0100574) | 2.15699181 |
| 93 | Abnormality of the calcaneus (HP:0008364) | 2.15459785 |
| 94 | Abnormality of the umbilical cord (HP:0010881) | 2.15440854 |
| 95 | Rimmed vacuoles (HP:0003805) | 2.13128832 |
| 96 | CNS hypomyelination (HP:0003429) | 2.12345182 |
| 97 | Hypoplastic pelvis (HP:0008839) | 2.11809078 |
| 98 | Small intestinal stenosis (HP:0012848) | 2.11769828 |
| 99 | Duodenal stenosis (HP:0100867) | 2.11769828 |
| 100 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 2.09763937 |
| 101 | Areflexia of lower limbs (HP:0002522) | 2.09573597 |
| 102 | Horseshoe kidney (HP:0000085) | 2.09149521 |
| 103 | Myelodysplasia (HP:0002863) | 2.07685961 |
| 104 | Personality changes (HP:0000751) | 2.07386276 |
| 105 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.04688120 |
| 106 | Postnatal microcephaly (HP:0005484) | 2.04365317 |
| 107 | Exercise-induced muscle cramps (HP:0003710) | 2.02868886 |
| 108 | Glioma (HP:0009733) | 2.01663444 |
| 109 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.99962724 |
| 110 | Exercise intolerance (HP:0003546) | 1.99497391 |
| 111 | Increased intramyocellular lipid droplets (HP:0012240) | 1.99487549 |
| 112 | Increased serum lactate (HP:0002151) | 1.99007718 |
| 113 | Increased CSF lactate (HP:0002490) | 1.98158874 |
| 114 | Embryonal renal neoplasm (HP:0011794) | 1.97760058 |
| 115 | Glossoptosis (HP:0000162) | 1.96546108 |
| 116 | Hyperglycinemia (HP:0002154) | 1.95682067 |
| 117 | Sloping forehead (HP:0000340) | 1.95211210 |
| 118 | Microretrognathia (HP:0000308) | 1.94780968 |
| 119 | Megaloblastic anemia (HP:0001889) | 1.94451431 |
| 120 | Abnormality of methionine metabolism (HP:0010901) | 1.94397036 |
| 121 | Dysautonomia (HP:0002459) | 1.94015168 |
| 122 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.93049857 |
| 123 | Abnormality of alanine metabolism (HP:0010916) | 1.93049857 |
| 124 | Hyperalaninemia (HP:0003348) | 1.93049857 |
| 125 | Neoplasm of the adrenal gland (HP:0100631) | 1.92452268 |
| 126 | Acute necrotizing encephalopathy (HP:0006965) | 1.90643499 |
| 127 | Abnormality of serum amino acid levels (HP:0003112) | 1.90579056 |
| 128 | Ulnar deviation of the wrist (HP:0003049) | 1.90110863 |
| 129 | Spastic diplegia (HP:0001264) | 1.90069905 |
| 130 | Aplasia/hypoplasia of the humerus (HP:0006507) | 1.89095679 |
| 131 | Type I transferrin isoform profile (HP:0003642) | 1.88845238 |
| 132 | Patent foramen ovale (HP:0001655) | 1.87797178 |
| 133 | Supernumerary spleens (HP:0009799) | 1.87751024 |
| 134 | Progressive external ophthalmoplegia (HP:0000590) | 1.87336947 |
| 135 | Facial cleft (HP:0002006) | 1.86752741 |
| 136 | 11 pairs of ribs (HP:0000878) | 1.83303297 |
| 137 | Atresia of the external auditory canal (HP:0000413) | 1.82702409 |
| 138 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 1.82676504 |
| 139 | Unsteady gait (HP:0002317) | 1.82621168 |
| 140 | Hypoplasia of the iris (HP:0007676) | 1.81519668 |
| 141 | Premature skin wrinkling (HP:0100678) | 1.81354488 |
| 142 | Abnormality of the neuromuscular junction (HP:0003398) | 1.81158880 |
| 143 | Fatigable weakness (HP:0003473) | 1.81158880 |
| 144 | Short palpebral fissure (HP:0012745) | 1.80341398 |
| 145 | Abnormal number of incisors (HP:0011064) | 1.79804499 |
| 146 | Ovarian neoplasm (HP:0100615) | 1.79247788 |
| 147 | CNS demyelination (HP:0007305) | 1.78977407 |
| 148 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 1.78810983 |
| 149 | Ureteral duplication (HP:0000073) | 1.78748775 |
| 150 | Cortical dysplasia (HP:0002539) | 1.78518136 |
| 151 | Hypochromic anemia (HP:0001931) | 1.76781392 |
| 152 | Granulocytopenia (HP:0001913) | 1.76695718 |
| 153 | Abnormality of the duodenum (HP:0002246) | 1.76227943 |
| 154 | Hepatocellular necrosis (HP:0001404) | 1.76132441 |
| 155 | Bifid tongue (HP:0010297) | 1.75260570 |
| 156 | Muscle fiber atrophy (HP:0100295) | 1.74589188 |
| 157 | Methylmalonic acidemia (HP:0002912) | 1.73707942 |
| 158 | Methylmalonic aciduria (HP:0012120) | 1.72934852 |
| 159 | Reduced antithrombin III activity (HP:0001976) | 1.72626860 |
| 160 | Neck muscle weakness (HP:0000467) | 1.72383448 |
| 161 | Abnormal auditory evoked potentials (HP:0006958) | 1.72283379 |
| 162 | Lethargy (HP:0001254) | 1.70652546 |
| 163 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.69907515 |
| 164 | Abnormality of T cell physiology (HP:0011840) | 1.67717067 |
| 165 | Calf muscle hypertrophy (HP:0008981) | 1.66070186 |
| 166 | Coarctation of aorta (HP:0001680) | 1.63519805 |
| 167 | Proximal amyotrophy (HP:0007126) | 1.62951556 |
| 168 | Microglossia (HP:0000171) | 1.62866579 |
| 169 | Enlarged epiphyses (HP:0010580) | 1.62645347 |
| 170 | Abnormality of eosinophils (HP:0001879) | 1.62420131 |
CCDC43 
