Categories: Craniofacial phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 303600 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Disease-related: 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."

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. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).