Categories: Craniofacial phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 303600 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: no

Species-specific name: lethal brachycephalic-like facial dysmorphia

Inheritance: Dierks et al. (2017): "Pedigree analysis supported an X-linked recessive mode of inheritance."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Dierks et al. (2017): "Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival."

Pathology: Dierks et al. (2017): "Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination."

Breed: Labrador Retriever (Dog) (VBO_0200800).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below