has material basis in germline mutation in RNU4ATAC microcephalic osteodysplastic primordial dwarfism osteochondrodysplasia microcephalic osteodysplastic primordial dwarfism type I https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/7497 https://www.malacards.org/card/microcephalic_osteodysplastic_primordial_dwarfism_type_i microcephalic osteodysplastic primordial dwarfism, type I A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. GARD:0015144 SCTID:254102008 brachymelic primordial dwarfism DOID:0060608 UMLS:C1859452 low-birth-weight dwarfism with skeletal dysplasia MOPD 1 OMIM:210710 cephaloskeletal dysplasia osteodysplastic primordial dwarfism, type 1 MEDGEN:347149 microcephalic osteodysplastic primordial dwarfism, type 1 MOPD1 Taybi-Linder syndrome MONDO:0008871 microcephalic osteodysplastic primordial dwarfism types I and III Mendelian neurodevelopmental disorder RNU4ATAC spectrum disorder