OMIM
Db Link Name Definition Comment Is a
OMIM OMIM:617159 SIFRIM-HITZ-WEISS SYNDROME; SIHIWES
OMIM OMIM:617162 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46
OMIM OMIM:617164 SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD
OMIM OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47
OMIM OMIM:617168 AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
OMIM OMIM:617169 SOTOS SYNDROME 3; SOTOS3
OMIM OMIM:617171 DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD
OMIM OMIM:617173 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA
OMIM OMIM:617174 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
OMIM OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA
OMIM OMIM:617180 CHITAYAT SYNDROME; CHYTS
OMIM OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI
OMIM OMIM:617183 HAREL-YOON SYNDROME; HAYOS
OMIM OMIM:617184 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A
OMIM OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL
OMIM OMIM:617187 SPERMATOGENIC FAILURE 16; SPGF16
OMIM OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57
OMIM OMIM:617190 SHASHI-PENA SYNDROME; SHAPNS
OMIM OMIM:617193 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
OMIM OMIM:617194 LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11
OMIM OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7
OMIM OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8
OMIM OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO
OMIM OMIM:617213 SEDOHEPTULOKINASE DEFICIENCY; SHPKD
OMIM OMIM:617214 SPERMATOGENIC FAILURE 17; SPGF17