has material basis in germline mutation in PRUNE1 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies https://github.com/monarch-initiative/mondo/issues/3680 https://www.malacards.org/card/neurodevelopmental_disorder_with_microcephaly_hypotonia_and_variable_brain_anomalies Orphanet:544469 OMIM:617481 NMIHBA MEDGEN:1380860 GARD:0017985 A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies UMLS:C4479566 MONDO:0060490 Mendelian neurodevelopmental disorder