Properties

MORBIDMAP :NAME MM: Pitt-Hopkins syndrome :MORBID_ID 610954 :NUM 3 :SYM (TCF4 SEF2 ITF2 PTHS) :LOCUS 18q21.2 :OMIM_ID 602272 :SNP PITT-HOPKINS SYNDROME; TCF4, ARG576TRP; rs121909120 PITT-HOPKINS SYNDROME; TCF4, ARG576GLN; rs121909121 PITT-HOPKINS SYNDROME; TCF4, ARG358TER; rs121909122 PITT-HOPKINS SYNDROME; TCF4, ARG574PRO; rs121909123 :AAUSHI PITT_HOPKINS_SYNDROME :AAUSHIGENE TRANSCRIPTION_FACTOR_ITF2