Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
Definition
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.
Also known as NEDHAFA, RENU, ReNU syndrome, RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome, RNU4-2-related neurodevelopmental syndrome, RNU4-2-related ReNU syndrome — per MONDO