Login to search by marker and hierarchy!
-
Cerebrocostomandibular syndrome
Relevant markers:
Choanal atresiaDeformity of rib/sHypoplastic thoracic cageMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphalocelePolyhydramniosPoor ossification of rib/sShort upper limbsTalipesHydramniosReceding foreheadParents markers:Agenesis of corpus callosum (ACC)HemivertebraKidneysMicrocephalyNeural tube defectPyelectasis/hydronephrosisScoliosisVentriculomegalyVentricular septal defect (VSD)Spine and Pelvis
Male — Female Ratio: 1 — 1 Inheritance mode: AD, Sporadic (new mutation) Other online databases: OrphaNet, OMIM, Jablonski's Database Login for more details.