Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Phenotypes:
Affected Systems
hm1
ht2
ht3
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craniofacial
√ √ √
abnormal craniofacial morphology
√
abnormal cranium morphology
√
abnormal lambdoid suture morphology
√ √
abnormal basicranium morphology
√
abnormal neurocranium morphology
√
abnormal basisphenoid bone morphology
√
small basisphenoid bone
√ √
abnormal frontal bone morphology
√
abnormal interparietal bone morphology
√ √
abnormal parietal bone morphology
√ √
alisphenoid bone hypoplasia
√ √
absent presphenoid bone
√ √
mandibular coronoid process hypoplasia
√
short mandibular coronoid process
√
domed cranium
√ √
palatal shelf hypoplasia
√ √
absent palatal shelf
√
cleft secondary palate
√
digestive/alimentary system
√ √
palatal shelf hypoplasia
√ √
absent palatal shelf
√
cleft secondary palate
√
growth/size/body
√ √ √
omphalocele
√
abnormal head morphology
√ √
abnormal frontal bone morphology
√
alisphenoid bone hypoplasia
√ √
absent presphenoid bone
√ √
mandibular coronoid process hypoplasia
√
short mandibular coronoid process
√
palatal shelf hypoplasia
√ √
absent palatal shelf
√
cleft secondary palate
√
increased body size
√
increased fetal size
√
limbs/digits/tail
√ √ √
preaxial polydactyly
√ √
syndactyly
√
kinked tail
√ √
mortality/aging
√ √
postnatal lethality, complete penetrance
√
lethality throughout fetal growth and development, incomplete penetrance
√
nervous system
√
exencephaly
√
skeleton
√ √ √
abnormal cranium morphology
√
abnormal lambdoid suture morphology
√ √
abnormal basicranium morphology
√
abnormal neurocranium morphology
√
abnormal basisphenoid bone morphology
√
small basisphenoid bone
√ √
abnormal frontal bone morphology
√
abnormal interparietal bone morphology
√ √
abnormal parietal bone morphology
√ √
alisphenoid bone hypoplasia
√ √
absent presphenoid bone
√ √
mandibular coronoid process hypoplasia
√
short mandibular coronoid process
√
domed cranium
√ √
scapular bone foramen
√ √
abnormal sternum morphology
√ √
asymmetric sternocostal joints
√
abnormal sternum manubrium morphology
√
abnormal xiphoid process morphology
√
abnormal intramembranous bone ossification
√