has material basis in germline mutation in RNU4-2 Mendelian neurodevelopmental disorder neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language https://github.com/monarch-initiative/mondo/issues/8496 https://github.com/monarch-initiative/mondo/issues/9547 https://www.malacards.org/card/renu_syndrome RENU A syndromic neurodevelopmental disorder in which the cause of the disease is a variation in RNU4-2 gene and is inherited in an autosomal dominant pattern. It is characterized by moderate to severe global developmental delay/intellectual disability, speech anomalies (mostly non-verbal), hypotonia, abnormal brain MRI (reduced white matter volume, hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination), dysmorphic facial features, short stature, microcephaly, behavioral issues, seizures and feeding difficulties, as well as variable vision, gastrointestinal, endocrine, skeletal, genitourinary, cardiac, and cutaneous anomalies. It has autosomal dominant inheritance. NEDHAFA MEDGEN:1854654 RNU4-2-related ReNU syndrome MONDO:0971172 RNU4-2-related neurodevelopmental syndrome UMLS:C5935628 Orphanet:686488 ReNU syndrome OMIM:620851 GARD:0027315 RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome DOID:0061190