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Metadata
ID	DOID:0060974
Name	autosomal recessive Robinow syndrome 2
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/
Xrefs	MIM:618529
Parent Relationships	is_a Robinow syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance