OMIM |
OMIM:617397 |
PSEUDO-TORCH SYNDROME 2; PTORCH2 |
— |
— |
— |
OMIM |
OMIM:617402 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C |
— |
— |
— |
OMIM |
OMIM:617403 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D |
— |
— |
— |
OMIM |
OMIM:617404 |
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID |
— |
— |
— |
OMIM |
OMIM:617405 |
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17 |
— |
— |
— |
OMIM |
OMIM:617406 |
BARDET-BIEDL SYNDROME 21; BBS21 |
— |
— |
— |
OMIM |
OMIM:617408 |
DIAMOND-BLACKFAN ANEMIA 16; DBA16 |
— |
— |
— |
OMIM |
OMIM:617409 |
DIAMOND-BLACKFAN ANEMIA 17; DBA17 |
— |
— |
— |
OMIM |
OMIM:617412 |
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD |
— |
— |
— |
OMIM |
OMIM:617425 |
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA |
— |
— |
— |
OMIM |
OMIM:617432 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60 |
— |
— |
— |
OMIM |
OMIM:617433 |
RETINITIS PIGMENTOSA 78; RP78 |
— |
— |
— |
OMIM |
OMIM:617435 |
LOPES-MACIEL-RODAN SYNDROME; LOMARS |
— |
— |
— |
OMIM |
OMIM:617439 |
CRANIOSYNOSTOSIS 7; CRS7 |
— |
— |
— |
OMIM |
OMIM:617441 |
THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY |
— |
— |
— |
OMIM |
OMIM:617442 |
PREMATURE OVARIAN FAILURE 13; POF13 |
— |
— |
— |
OMIM |
OMIM:617443 |
BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 |
— |
— |
— |
OMIM |
OMIM:617450 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP |
— |
— |
— |
OMIM |
OMIM:617452 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES; IDDFSDA |
— |
— |
— |
OMIM |
OMIM:617460 |
RETINITIS PIGMENTOSA 79; RP79 |
— |
— |
— |
OMIM |
OMIM:617466 |
TOWNES-BROCKS SYNDROME 2; TBS2 |
— |
— |
— |
OMIM |
OMIM:617468 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY |
— |
— |
— |
OMIM |
OMIM:617475 |
SPECIFIC GRANULE DEFICIENCY 2; SGD2 |
— |
— |
— |
OMIM |
OMIM:617478 |
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME; SHDRA |
— |
— |
— |
OMIM |
OMIM:617480 |
46,XX SEX REVERSAL 4; SRXX4 |
— |
— |
— |