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.
#247200 - MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED
Cytogenetic locations: #nW]##
Gene summaries Genetic tests Medical literature
*615416 - BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A9; BHLHA9
#613215 - CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME
Cytogenetic locations: 601565
*612211 - TUMOR SUPPRESSOR CANDIDATE 5; TUSC5
*607875 - INOSITOL POLYPHOSPHATE-5-PHOSPHATASE K; INPP5K
Cytogenetic locations: #^#1##
*607873 - SCAVENGER RECEPTOR CLASS F, MEMBER 1; SCARF1
*607848 - RAB-INTERACTING LYSOSOMAL PROTEIN; RILP
#607432 - LISSENCEPHALY 1; LIS1
SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED
*607300 - PRE-mRNA-PROCESSING FACTOR 8; PRPF8
*607251 - TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 22; TIMM22
Cytogenetic locations: 600182
#606854 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL); CDCBM14A
Cytogenetic locations: 616869
*606538 - MYOSIN IC; MYO1C
*605066 - TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, EPSILON ISOFORM; YWHAE
Cytogenetic locations: 16q24.2
604382 - LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA
*603825 - HYPERMETHYLATED IN CANCER 1; HIC1
*603039 - MAX NETWORK TRANSCRIPTIONAL REPRESSOR; MNT
Cytogenetic locations: ######
#601808 - CHROMOSOME 18q DELETION SYNDROME
Cytogenetic locations: Alopecia
*601545 - PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1
*601215 - ATR SERINE/THREONINE KINASE; ATR
601160 - LISSENCEPHALY TYPE III AND BONE DYSPLASIA
Filter your results:
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on