-
First reported by
American geneticists John M.
Opitz and
Elisabeth G.
Kaveggia in 1974, its
major clinical features include intellectual disability, hyperactivity...
-
Oculocerebrocutaneous syndrome 164180
Oculodentodigital dysplasia 164200 GJA1 Optiz–
Kaveggia syndrome 305450 MED12
Otopalatodigital syndrome 2 304120 FLNA Periventricular...
-
Hodgkin Noonan syndrome –
Jacqueline Noonan Opitz–
Kaveggia syndrome – John M. Opitz,
Elisabeth G.
Kaveggia Ormond's
disease – John
Kelso Ormond Osgood–Schlatter...
- LFS and is also ****ociated with a
missense mutation of MED12 is Opitz-
Kaveggia syndrome (FGS).
Common features shared by both LFS and FGS
include X-linked...
- the "Opitz syndromes"
including Smith–Lemli–Opitz
syndrome (SLOS), Opitz–
Kaveggia syndrome (FGS1),
Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other...
-
disorder Opitz trigonocephaly syndrome, type of
cephalic disorder Opitz–
Kaveggia syndrome,
genetic syndrome Autosomal dominant opitz G/BBB syndrome, disorder...
-
Omodysplasia 1; 258315; GPC6
Opitz G syndrome, type I; 300000; MID1 Opitz–
Kaveggia syndrome; 305450; MED12
Opremazole poor metabolizer; 609535; CYP2C Optic...
- ****ATION SYNDROME". omim.org.
Retrieved 2022-06-13. Neuhäuser, G.;
Kaveggia, E. G.; France, T. D.; Opitz, J. M. (1975-07-01). "Syndrome of
mental ****ation...
- humans, and
discovered and
delineated Smith–Lemli–Opitz syndrome, Opitz–
Kaveggia syndrome,
Opitz G/BBB syndrome, Bohring–Opitz syndrome, and
other autosomal...
