autosomal recessive Robinow syndrome 2

Term ID

DOID:0060974

Synonyms

Definition

A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/29276006/

References

• MIM:618529

Ontology

Human Disease   ( DOID:0060974 )