has material basis in germline mutation in RTTN syndromic disease microcephalic primordial dwarfism due to RTTN deficiency https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/microcephaly_short_stature_and_polymicrogyria_with_or_without_seizures Orphanet:468631 UMLS:C3553831 OMIM:614833 GARD:0017841 MEDGEN:766745 Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported. MONDO:0018764 primordial dwarfism and slender bone disorder