Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | | | | 168 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | | | | 1 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | | | | 20 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | | | | 161 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | | | | 146 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | | | | | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040281 - Very frequent | | | 531 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | | | | 531 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | | | | 11 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | | | | 68 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | | | | 2 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040283 - Occasional | | | 546 | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0009906 | HP:0009906 | Aplasia/Hypoplasia of the earlobes | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 168 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 284 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 9 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 531 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | . | | | 1 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0009906 | HP:0000385 | Small earlobe | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0009906 | HP:0000387 | Absent earlobe | 1 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |