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| Term | autosomal recessive Robinow syndrome 2 | ID (Ontology) | DOID:0060974 (Human Disease) |
| 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. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ |__Robinow syndrome_____________| syndrome | |__Robinow syndrome_____________| autosomal recessive Robinow syndrome 2 |
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autosomal recessive disease Robinow syndrome |
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| MIM:618529 | |||