Warning: The NCBI web site requires JavaScript to function. more...
An official website of the United States government
The .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site.
The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.
Error occurred: cannot get document summary
#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
#620782 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER; NEDLAAD
#620763 - CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD
*620758 - TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23B; TIMM23B
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
*620742 - INTRAFLAGELLAR TRANSPORT 70B; IFT70B
*620741 - INTRAFLAGELLAR TRANSPORT 70A; IFT70A
#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
#620728 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C
#620727 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B; UCMD1B
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC, INCLUDED; UCMD1A/1B, DIGENIC, INCLUDED
#620726 - BETHLEM MYOPATHY 1C; BTHLM1C
#620725 - BETHLEM MYOPATHY 1B; BTHLM1B
#620722 - DEAFNESS, AUTOSOMAL DOMINANT 90; DFNA90
#620719 - NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM; NEDMSF
#620712 - POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS
*620702 - MITOCHONDRIAL CALCIUM UNIPORTER, DOMINANT-NEGATIVE SUBUNIT BETA; MCUB
#620700 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81; MRT81
#620699 - MAPLE SYRUP URINE DISEASE, TYPE II; MSUD2
Filter your results:
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on